Incidental Mutation 'R9169:Smchd1'
| ID |
696310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R9169 (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 71722659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 759
(K759E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: K759E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: K759E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (92/92) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
T |
7: 41,261,109 (GRCm39) |
|
probably benign |
Het |
| 9330182O14Rik |
A |
T |
15: 40,005,632 (GRCm39) |
K17* |
probably null |
Het |
| Adamtsl3 |
A |
C |
7: 82,223,188 (GRCm39) |
I990L |
probably damaging |
Het |
| Add1 |
T |
A |
5: 34,788,122 (GRCm39) |
S724T |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,072,627 (GRCm39) |
N865S |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ap1m2 |
T |
A |
9: 21,223,523 (GRCm39) |
I8F |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,824,944 (GRCm39) |
T811A |
|
Het |
| Axin2 |
A |
G |
11: 108,822,378 (GRCm39) |
D310G |
probably damaging |
Het |
| Bin1 |
T |
G |
18: 32,562,251 (GRCm39) |
F379L |
possibly damaging |
Het |
| Bin2 |
C |
A |
15: 100,554,631 (GRCm39) |
S91I |
possibly damaging |
Het |
| Birc5 |
A |
G |
11: 117,743,599 (GRCm39) |
N111S |
probably benign |
Het |
| Blk |
T |
A |
14: 63,620,130 (GRCm39) |
N137Y |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,796,873 (GRCm39) |
A1534V |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,451,757 (GRCm39) |
V207A |
probably damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,949 (GRCm39) |
I95V |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,309,862 (GRCm39) |
D1579G |
probably benign |
Het |
| Cfap36 |
C |
A |
11: 29,196,541 (GRCm39) |
K19N |
probably benign |
Het |
| Cfap52 |
C |
T |
11: 67,844,860 (GRCm39) |
V70M |
possibly damaging |
Het |
| Chid1 |
A |
T |
7: 141,093,722 (GRCm39) |
I298N |
probably damaging |
Het |
| Clstn1 |
G |
T |
4: 149,731,322 (GRCm39) |
R888L |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,822,596 (GRCm39) |
T254S |
unknown |
Het |
| Coro6 |
C |
T |
11: 77,359,329 (GRCm39) |
P301S |
probably damaging |
Het |
| Cstdc2 |
A |
G |
2: 148,692,589 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,422,114 (GRCm39) |
D102G |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,433,381 (GRCm39) |
F353L |
probably benign |
Het |
| Dnajc10 |
A |
T |
2: 80,163,315 (GRCm39) |
I344L |
probably benign |
Het |
| Dst |
T |
C |
1: 34,303,652 (GRCm39) |
V4026A |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,715,203 (GRCm39) |
E114G |
possibly damaging |
Het |
| Fabp7 |
A |
G |
10: 57,662,439 (GRCm39) |
I109V |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,416,109 (GRCm39) |
F206S |
probably damaging |
Het |
| Gbp8 |
C |
T |
5: 105,179,155 (GRCm39) |
A115T |
possibly damaging |
Het |
| Gm17067 |
T |
C |
7: 42,357,627 (GRCm39) |
T292A |
probably benign |
Het |
| Gp2 |
T |
C |
7: 119,041,929 (GRCm39) |
D532G |
probably benign |
Het |
| Gtf2i |
C |
A |
5: 134,271,534 (GRCm39) |
A917S |
probably damaging |
Het |
| Guca1b |
A |
G |
17: 47,702,827 (GRCm39) |
E169G |
possibly damaging |
Het |
| Hdac1 |
A |
T |
4: 129,428,499 (GRCm39) |
Y24N |
probably damaging |
Het |
| Hepacam |
T |
C |
9: 37,293,693 (GRCm39) |
F251L |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,506,092 (GRCm39) |
N3811K |
probably damaging |
Het |
| Htra4 |
A |
T |
8: 25,520,133 (GRCm39) |
M391K |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,930 (GRCm39) |
T760A |
probably benign |
Het |
| Ints1 |
T |
G |
5: 139,748,586 (GRCm39) |
T1074P |
probably benign |
Het |
| Itga6 |
A |
T |
2: 71,647,015 (GRCm39) |
Q75L |
possibly damaging |
Het |
| Mapk14 |
A |
C |
17: 28,960,814 (GRCm39) |
N272T |
probably benign |
Het |
| Meikin |
A |
T |
11: 54,285,517 (GRCm39) |
T185S |
possibly damaging |
Het |
| Moxd2 |
C |
T |
6: 40,860,490 (GRCm39) |
G318D |
possibly damaging |
Het |
| Mtmr3 |
G |
A |
11: 4,437,739 (GRCm39) |
T905I |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,567,824 (GRCm39) |
I1565T |
unknown |
Het |
| Myh14 |
A |
G |
7: 44,271,281 (GRCm39) |
S1500P |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,310,874 (GRCm39) |
E475G |
probably benign |
Het |
| Ngef |
C |
A |
1: 87,473,581 (GRCm39) |
R67L |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,528 (GRCm39) |
E213G |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,052 (GRCm39) |
I154F |
probably damaging |
Het |
| Or5b124 |
A |
G |
19: 13,610,903 (GRCm39) |
I143V |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,906,573 (GRCm39) |
S53P |
probably benign |
Het |
| Or9r3 |
A |
C |
10: 129,947,723 (GRCm39) |
I312R |
probably benign |
Het |
| Pcdhga3 |
C |
T |
18: 37,809,088 (GRCm39) |
L514F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,221,572 (GRCm39) |
M2018T |
possibly damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,503,755 (GRCm39) |
|
probably null |
Het |
| Psapl1 |
A |
G |
5: 36,362,880 (GRCm39) |
S491G |
possibly damaging |
Het |
| Psmf1 |
A |
T |
2: 151,577,457 (GRCm39) |
D73E |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,358 (GRCm39) |
D147G |
probably benign |
Het |
| Ramacl |
T |
C |
13: 67,056,063 (GRCm39) |
F19L |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,736,935 (GRCm39) |
V309E |
possibly damaging |
Het |
| Rhobtb3 |
T |
A |
13: 76,041,121 (GRCm39) |
T396S |
probably benign |
Het |
| Rpa1 |
A |
T |
11: 75,200,999 (GRCm39) |
L475* |
probably null |
Het |
| Rtkn |
T |
A |
6: 83,129,190 (GRCm39) |
S562T |
probably damaging |
Het |
| Saxo5 |
A |
T |
8: 3,525,967 (GRCm39) |
Y40F |
possibly damaging |
Het |
| Scamp1 |
C |
T |
13: 94,389,533 (GRCm39) |
D35N |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,371,146 (GRCm39) |
A309T |
probably damaging |
Het |
| Scube1 |
G |
A |
15: 83,543,298 (GRCm39) |
T180M |
possibly damaging |
Het |
| Sez6 |
T |
G |
11: 77,868,473 (GRCm39) |
F945V |
probably damaging |
Het |
| Sf3a1 |
C |
T |
11: 4,116,681 (GRCm39) |
T124M |
probably benign |
Het |
| Sort1 |
C |
A |
3: 108,247,994 (GRCm39) |
C446* |
probably null |
Het |
| Sun1 |
T |
A |
5: 139,219,273 (GRCm39) |
S360T |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,268,238 (GRCm39) |
F536L |
probably damaging |
Het |
| Taar6 |
A |
C |
10: 23,861,273 (GRCm39) |
V91G |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,666,348 (GRCm39) |
L290H |
probably damaging |
Het |
| Tmc2 |
T |
A |
2: 130,083,516 (GRCm39) |
I491N |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,187 (GRCm39) |
I113T |
probably damaging |
Het |
| Ttc14 |
C |
T |
3: 33,857,071 (GRCm39) |
Q183* |
probably null |
Het |
| Txndc16 |
T |
A |
14: 45,373,385 (GRCm39) |
D748V |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 63,844,067 (GRCm39) |
D30G |
possibly damaging |
Het |
| Zc3h14 |
C |
T |
12: 98,745,505 (GRCm39) |
S498L |
probably damaging |
Het |
| Zc3h7b |
A |
C |
15: 81,661,184 (GRCm39) |
D341A |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,960,923 (GRCm39) |
C505S |
probably damaging |
Het |
| Zfp354c |
A |
C |
11: 50,706,088 (GRCm39) |
L329R |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,657,871 (GRCm39) |
D680V |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,185 (GRCm39) |
F580L |
probably benign |
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 |
|
R7414:Smchd1
|
UTSW |
17 |
71,782,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CCACAATGTAGGGATGGAGTTTG -3'
(R):5'- TGCACTCTTCACGTGAAAGC -3'
Sequencing Primer
(F):5'- ATCCATAGCTTCAGTCCCAGGG -3'
(R):5'- CACGTGAAAGCACTTATAATGAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation