Incidental Mutation 'R7414:Smchd1'
| ID |
575343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
045494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R7414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71782074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 29
(Y29C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: Y29C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: Y29C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c_3
|
139 |
299 |
6.8e-16 |
PFAM |
|
low complexity region
|
451 |
457 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
859 |
1087 |
9.1e-5 |
PROSPERO |
|
low complexity region
|
1185 |
1196 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1205 |
1409 |
9.1e-5 |
PROSPERO |
|
coiled coil region
|
1649 |
1680 |
N/A |
INTRINSIC |
|
SMC_hinge
|
1721 |
1848 |
1.64e-15 |
SMART |
|
low complexity region
|
1940 |
1954 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1229 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (98/101) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
PHENOTYPE: Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,779 (GRCm39) |
T90M |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,896,387 (GRCm39) |
S540T |
probably benign |
Het |
| Adcy4 |
G |
A |
14: 56,019,090 (GRCm39) |
L156F |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,510,256 (GRCm39) |
L95M |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,611,670 (GRCm39) |
T567A |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,485,741 (GRCm39) |
I1378V |
possibly damaging |
Het |
| Ankrd44 |
T |
A |
1: 54,706,539 (GRCm39) |
H639L |
probably damaging |
Het |
| Arfrp1 |
C |
T |
2: 181,001,307 (GRCm39) |
R189Q |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,459,193 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Bap1 |
G |
C |
14: 30,975,572 (GRCm39) |
G139R |
probably benign |
Het |
| Bms1 |
C |
T |
6: 118,360,706 (GRCm39) |
R1254Q |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,235 (GRCm39) |
V94A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,821,998 (GRCm39) |
F209L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,302,596 (GRCm39) |
T144A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,410,611 (GRCm39) |
T87A |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,055,479 (GRCm39) |
I1706L |
probably benign |
Het |
| Cr2 |
C |
A |
1: 194,832,344 (GRCm39) |
V981L |
probably benign |
Het |
| Cxcr6 |
G |
A |
9: 123,639,287 (GRCm39) |
W103* |
probably null |
Het |
| Dld |
A |
T |
12: 31,385,525 (GRCm39) |
F272Y |
probably damaging |
Het |
| Dmrt2 |
T |
A |
19: 25,650,950 (GRCm39) |
D45E |
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,433,502 (GRCm39) |
L8* |
probably null |
Het |
| Epg5 |
G |
T |
18: 78,026,747 (GRCm39) |
R1246L |
possibly damaging |
Het |
| Ets1 |
T |
A |
9: 32,664,153 (GRCm39) |
C350* |
probably null |
Het |
| Fam135b |
C |
T |
15: 71,350,105 (GRCm39) |
R345Q |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,229,122 (GRCm39) |
R696H |
probably damaging |
Het |
| Gbf1 |
C |
A |
19: 46,271,797 (GRCm39) |
Y159* |
probably null |
Het |
| Gcsam |
T |
C |
16: 45,437,301 (GRCm39) |
|
probably null |
Het |
| Gmpr2 |
G |
T |
14: 55,910,259 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
C |
A |
17: 36,498,275 (GRCm39) |
V257L |
not run |
Het |
| Hadha |
A |
G |
5: 30,331,610 (GRCm39) |
F449L |
possibly damaging |
Het |
| Haus3 |
T |
A |
5: 34,323,477 (GRCm39) |
I378L |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,706,392 (GRCm39) |
H272L |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,889 (GRCm39) |
V747A |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,370 (GRCm39) |
V81M |
possibly damaging |
Het |
| Insyn2a |
G |
T |
7: 134,519,738 (GRCm39) |
A264D |
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,840,673 (GRCm39) |
C345* |
probably null |
Het |
| Ipmk |
T |
A |
10: 71,217,124 (GRCm39) |
F223I |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,274,706 (GRCm39) |
N825K |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,475,072 (GRCm39) |
K344E |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,836,649 (GRCm39) |
T530I |
|
Het |
| Kmt2d |
C |
T |
15: 98,737,737 (GRCm39) |
V5120M |
unknown |
Het |
| Krt6b |
T |
G |
15: 101,587,449 (GRCm39) |
D215A |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,581,335 (GRCm39) |
K124R |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,240 (GRCm39) |
V67D |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,818,883 (GRCm39) |
Y661H |
probably damaging |
Het |
| Lrrc32 |
A |
T |
7: 98,149,201 (GRCm39) |
Q660H |
probably benign |
Het |
| Lurap1l |
T |
A |
4: 80,871,991 (GRCm39) |
H161Q |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,766,189 (GRCm39) |
I245T |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,069,022 (GRCm39) |
*1119K |
probably null |
Het |
| Mertk |
C |
A |
2: 128,571,313 (GRCm39) |
A89E |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 121,011,074 (GRCm39) |
Y375N |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,374,309 (GRCm39) |
D121E |
|
Het |
| N4bp2l1 |
T |
A |
5: 150,499,758 (GRCm39) |
N116I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,756 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,289,977 (GRCm39) |
D178E |
probably benign |
Het |
| Nt5c2 |
C |
A |
19: 46,878,328 (GRCm39) |
G444C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,349 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,762 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,764 (GRCm39) |
F64L |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,460,359 (GRCm39) |
S220A |
possibly damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,247 (GRCm39) |
S138P |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,866,267 (GRCm39) |
N979K |
|
Het |
| Prkcb |
A |
T |
7: 122,167,450 (GRCm39) |
T387S |
possibly damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,821,135 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,913,271 (GRCm39) |
E1668K |
possibly damaging |
Het |
| Sec16a |
T |
G |
2: 26,313,643 (GRCm39) |
T455P |
|
Het |
| Sec24b |
C |
A |
3: 129,803,514 (GRCm39) |
V412F |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,145 (GRCm39) |
N220S |
probably benign |
Het |
| Sgip1 |
C |
T |
4: 102,824,821 (GRCm39) |
Q581* |
probably null |
Het |
| Shf |
A |
T |
2: 122,190,063 (GRCm39) |
I175N |
possibly damaging |
Het |
| Slc16a10 |
G |
A |
10: 40,017,992 (GRCm39) |
T14M |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,254 (GRCm39) |
M258K |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,618 (GRCm39) |
Y308* |
probably null |
Het |
| Slfnl1 |
T |
C |
4: 120,392,451 (GRCm39) |
Y249H |
probably damaging |
Het |
| Snai1 |
C |
A |
2: 167,380,588 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,518,289 (GRCm39) |
Y368C |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,365,334 (GRCm39) |
V126M |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,715 (GRCm39) |
Y87F |
probably damaging |
Het |
| Tarm1 |
C |
A |
7: 3,545,318 (GRCm39) |
M177I |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,819,786 (GRCm39) |
F485L |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,556,717 (GRCm39) |
I435F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,128 (GRCm39) |
V15A |
probably benign |
Het |
| Tll2 |
T |
C |
19: 41,092,268 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,612,776 (GRCm39) |
D104G |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,555 (GRCm39) |
L887P |
probably damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,168,642 (GRCm39) |
V132D |
probably damaging |
Het |
| Tomt |
T |
A |
7: 101,549,715 (GRCm39) |
D191V |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,160,459 (GRCm39) |
M373V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,568,493 (GRCm39) |
P27467S |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,573,130 (GRCm39) |
V25921G |
probably damaging |
Het |
| Ubxn2a |
A |
C |
12: 4,941,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Uchl5 |
A |
T |
1: 143,682,433 (GRCm39) |
K319N |
unknown |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,693 (GRCm39) |
D222G |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,446 (GRCm39) |
I10V |
unknown |
Het |
| Vps13b |
T |
C |
15: 35,910,973 (GRCm39) |
I3579T |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,295 (GRCm39) |
H443Q |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,250,407 (GRCm39) |
M2T |
unknown |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,359 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Smchd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Smchd1
|
APN |
17 |
71,772,668 (GRCm39) |
splice site |
probably benign |
|
|
IGL00529:Smchd1
|
APN |
17 |
71,701,794 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00642:Smchd1
|
APN |
17 |
71,697,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Smchd1
|
APN |
17 |
71,705,618 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01330:Smchd1
|
APN |
17 |
71,743,783 (GRCm39) |
missense |
probably benign |
|
|
IGL01432:Smchd1
|
APN |
17 |
71,738,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01473:Smchd1
|
APN |
17 |
71,696,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01705:Smchd1
|
APN |
17 |
71,688,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01787:Smchd1
|
APN |
17 |
71,698,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01814:Smchd1
|
APN |
17 |
71,685,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01976:Smchd1
|
APN |
17 |
71,701,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL01995:Smchd1
|
APN |
17 |
71,751,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02090:Smchd1
|
APN |
17 |
71,738,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02302:Smchd1
|
APN |
17 |
71,665,128 (GRCm39) |
splice site |
probably benign |
|
|
IGL02309:Smchd1
|
APN |
17 |
71,750,898 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02391:Smchd1
|
APN |
17 |
71,738,254 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02515:Smchd1
|
APN |
17 |
71,747,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Smchd1
|
APN |
17 |
71,667,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL03081:Smchd1
|
APN |
17 |
71,667,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03212:Smchd1
|
APN |
17 |
71,750,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03236:Smchd1
|
APN |
17 |
71,698,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03297:Smchd1
|
APN |
17 |
71,656,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
Dry_tortugas
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Smchd1
|
UTSW |
17 |
71,738,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0254:Smchd1
|
UTSW |
17 |
71,718,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Smchd1
|
UTSW |
17 |
71,710,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Smchd1
|
UTSW |
17 |
71,701,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Smchd1
|
UTSW |
17 |
71,694,083 (GRCm39) |
missense |
probably benign |
|
|
R0520:Smchd1
|
UTSW |
17 |
71,736,538 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0616:Smchd1
|
UTSW |
17 |
71,686,569 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1120:Smchd1
|
UTSW |
17 |
71,665,141 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Smchd1
|
UTSW |
17 |
71,668,832 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Smchd1
|
UTSW |
17 |
71,685,252 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1501:Smchd1
|
UTSW |
17 |
71,672,089 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1718:Smchd1
|
UTSW |
17 |
71,755,828 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1765:Smchd1
|
UTSW |
17 |
71,707,196 (GRCm39) |
splice site |
probably benign |
|
|
R1766:Smchd1
|
UTSW |
17 |
71,698,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1803:Smchd1
|
UTSW |
17 |
71,694,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1829:Smchd1
|
UTSW |
17 |
71,677,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Smchd1
|
UTSW |
17 |
71,696,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1918:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1936:Smchd1
|
UTSW |
17 |
71,770,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Smchd1
|
UTSW |
17 |
71,677,923 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2147:Smchd1
|
UTSW |
17 |
71,705,583 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2180:Smchd1
|
UTSW |
17 |
71,770,794 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2398:Smchd1
|
UTSW |
17 |
71,733,431 (GRCm39) |
splice site |
probably benign |
|
|
R2398:Smchd1
|
UTSW |
17 |
71,667,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2935:Smchd1
|
UTSW |
17 |
71,718,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Smchd1
|
UTSW |
17 |
71,670,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3021:Smchd1
|
UTSW |
17 |
71,694,093 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3808:Smchd1
|
UTSW |
17 |
71,736,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Smchd1
|
UTSW |
17 |
71,735,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4486:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4487:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4488:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4489:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4723:Smchd1
|
UTSW |
17 |
71,743,742 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Smchd1
|
UTSW |
17 |
71,698,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4798:Smchd1
|
UTSW |
17 |
71,667,048 (GRCm39) |
nonsense |
probably null |
|
|
R4814:Smchd1
|
UTSW |
17 |
71,718,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4882:Smchd1
|
UTSW |
17 |
71,665,234 (GRCm39) |
intron |
probably benign |
|
|
R5088:Smchd1
|
UTSW |
17 |
71,738,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5589:Smchd1
|
UTSW |
17 |
71,747,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Smchd1
|
UTSW |
17 |
71,762,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Smchd1
|
UTSW |
17 |
71,701,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5994:Smchd1
|
UTSW |
17 |
71,672,404 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6009:Smchd1
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Smchd1
|
UTSW |
17 |
71,684,052 (GRCm39) |
nonsense |
probably null |
|
|
R6082:Smchd1
|
UTSW |
17 |
71,656,714 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6126:Smchd1
|
UTSW |
17 |
71,677,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Smchd1
|
UTSW |
17 |
71,677,922 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6788:Smchd1
|
UTSW |
17 |
71,782,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6853:Smchd1
|
UTSW |
17 |
71,743,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Smchd1
|
UTSW |
17 |
71,660,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Smchd1
|
UTSW |
17 |
71,656,662 (GRCm39) |
missense |
probably benign |
|
|
R7045:Smchd1
|
UTSW |
17 |
71,722,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7068:Smchd1
|
UTSW |
17 |
71,694,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Smchd1
|
UTSW |
17 |
71,672,214 (GRCm39) |
splice site |
probably null |
|
|
R7089:Smchd1
|
UTSW |
17 |
71,668,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Smchd1
|
UTSW |
17 |
71,685,202 (GRCm39) |
missense |
probably benign |
|
|
R7158:Smchd1
|
UTSW |
17 |
71,707,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7180:Smchd1
|
UTSW |
17 |
71,701,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7183:Smchd1
|
UTSW |
17 |
71,660,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Smchd1
|
UTSW |
17 |
71,652,359 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7512:Smchd1
|
UTSW |
17 |
71,688,364 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7631:Smchd1
|
UTSW |
17 |
71,705,684 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7641:Smchd1
|
UTSW |
17 |
71,697,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7709:Smchd1
|
UTSW |
17 |
71,665,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Smchd1
|
UTSW |
17 |
71,718,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Smchd1
|
UTSW |
17 |
71,782,296 (GRCm39) |
start gained |
probably benign |
|
|
R7898:Smchd1
|
UTSW |
17 |
71,684,813 (GRCm39) |
splice site |
probably null |
|
|
R7965:Smchd1
|
UTSW |
17 |
71,762,621 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8177:Smchd1
|
UTSW |
17 |
71,697,448 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8359:Smchd1
|
UTSW |
17 |
71,738,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8370:Smchd1
|
UTSW |
17 |
71,701,908 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8426:Smchd1
|
UTSW |
17 |
71,755,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Smchd1
|
UTSW |
17 |
71,714,244 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8948:Smchd1
|
UTSW |
17 |
71,743,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Smchd1
|
UTSW |
17 |
71,755,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Smchd1
|
UTSW |
17 |
71,701,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9054:Smchd1
|
UTSW |
17 |
71,670,017 (GRCm39) |
nonsense |
probably null |
|
|
R9141:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Smchd1
|
UTSW |
17 |
71,722,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Smchd1
|
UTSW |
17 |
71,672,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9368:Smchd1
|
UTSW |
17 |
71,694,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Smchd1
|
UTSW |
17 |
71,718,843 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9416:Smchd1
|
UTSW |
17 |
71,701,791 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9426:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Smchd1
|
UTSW |
17 |
71,667,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9511:Smchd1
|
UTSW |
17 |
71,750,899 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9591:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Smchd1
|
UTSW |
17 |
71,668,836 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTATGGCGGTGACCCAC -3'
(R):5'- AAGCGCGTTTGAATCGGTTC -3'
Sequencing Primer
(F):5'- TGACCCACCCAGGCTTCAG -3'
(R):5'- CGGTTCCCGGGTTACTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation