Incidental Mutation 'R8698:Smc1b'
ID |
668877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
068552-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R8698 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84997047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 524
(H524Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: H524Q
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: H524Q
Domain | Start | End | E-Value | Type |
Pfam:AAA_23
|
7 |
361 |
2e-10 |
PFAM |
Pfam:AAA_21
|
27 |
372 |
7.2e-9 |
PFAM |
low complexity region
|
422 |
437 |
N/A |
INTRINSIC |
SMC_hinge
|
513 |
629 |
1.5e-23 |
SMART |
PDB:1W1W|D
|
1046 |
1218 |
3e-42 |
PDB |
Blast:AAA
|
1063 |
1217 |
5e-25 |
BLAST |
SCOP:d1e69a_
|
1114 |
1202 |
3e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
G |
15: 102,247,250 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,306,714 (GRCm39) |
N1384S |
probably benign |
Het |
Adgre1 |
T |
C |
17: 57,709,003 (GRCm39) |
S65P |
probably benign |
Het |
Adgrl4 |
G |
T |
3: 151,203,512 (GRCm39) |
C124F |
probably damaging |
Het |
Aldh1b1 |
G |
A |
4: 45,802,942 (GRCm39) |
G160D |
probably damaging |
Het |
Alpi |
T |
G |
1: 87,028,208 (GRCm39) |
D205A |
probably damaging |
Het |
AW146154 |
C |
A |
7: 41,129,934 (GRCm39) |
R394L |
probably benign |
Het |
Bcl10 |
G |
A |
3: 145,639,022 (GRCm39) |
M221I |
probably benign |
Het |
Brpf3 |
G |
A |
17: 29,037,436 (GRCm39) |
R768H |
probably damaging |
Het |
Cad |
G |
T |
5: 31,234,819 (GRCm39) |
R2116L |
probably benign |
Het |
Cand2 |
G |
T |
6: 115,763,852 (GRCm39) |
R258L |
probably damaging |
Het |
Car4 |
A |
T |
11: 84,855,009 (GRCm39) |
N119I |
probably benign |
Het |
Carmil1 |
C |
T |
13: 24,220,229 (GRCm39) |
G1165D |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,212,647 (GRCm39) |
T403A |
probably benign |
Het |
Cdon |
T |
G |
9: 35,398,269 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
C |
7: 83,607,790 (GRCm39) |
I739V |
probably damaging |
Het |
Cep85l |
A |
G |
10: 53,234,201 (GRCm39) |
I59T |
probably damaging |
Het |
Clec4f |
A |
T |
6: 83,630,267 (GRCm39) |
V97D |
probably benign |
Het |
Cnot6l |
A |
G |
5: 96,225,149 (GRCm39) |
C515R |
probably damaging |
Het |
Cntnap2 |
G |
A |
6: 47,026,156 (GRCm39) |
G935D |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,023,974 (GRCm39) |
H553R |
probably damaging |
Het |
Cops3 |
A |
G |
11: 59,708,886 (GRCm39) |
S423P |
probably damaging |
Het |
Cox15 |
C |
T |
19: 43,739,948 (GRCm39) |
R39H |
probably benign |
Het |
Ctnna2 |
A |
G |
6: 77,630,100 (GRCm39) |
V131A |
probably benign |
Het |
Dcst2 |
T |
A |
3: 89,276,044 (GRCm39) |
F392I |
probably benign |
Het |
Decr1 |
A |
G |
4: 15,922,483 (GRCm39) |
|
probably null |
Het |
Dennd3 |
A |
C |
15: 73,394,154 (GRCm39) |
T60P |
possibly damaging |
Het |
Dipk1a |
A |
T |
5: 108,057,776 (GRCm39) |
F261I |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,281,953 (GRCm39) |
N2859S |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,428,418 (GRCm39) |
I280F |
probably benign |
Het |
Dnah8 |
A |
C |
17: 31,094,009 (GRCm39) |
D4701A |
probably damaging |
Het |
Dyrk1a |
C |
A |
16: 94,487,414 (GRCm39) |
H541Q |
possibly damaging |
Het |
Eml4 |
T |
C |
17: 83,785,345 (GRCm39) |
S906P |
probably benign |
Het |
Fam169a |
G |
T |
13: 97,243,578 (GRCm39) |
V203F |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,260,152 (GRCm39) |
L682F |
unknown |
Het |
Gli2 |
T |
C |
1: 118,769,887 (GRCm39) |
Y555C |
probably damaging |
Het |
Gm3278 |
A |
G |
14: 16,081,505 (GRCm39) |
Y130C |
possibly damaging |
Het |
Gm8237 |
T |
A |
14: 5,863,554 (GRCm38) |
Y37F |
probably damaging |
Het |
Golga4 |
T |
G |
9: 118,385,029 (GRCm39) |
L717R |
probably damaging |
Het |
Gtpbp4 |
C |
T |
13: 9,024,249 (GRCm39) |
R568H |
probably benign |
Het |
Il1f10 |
A |
G |
2: 24,183,197 (GRCm39) |
N47S |
probably damaging |
Het |
Itga6 |
A |
G |
2: 71,673,618 (GRCm39) |
H884R |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,286,518 (GRCm39) |
K482R |
probably benign |
Het |
Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,278,583 (GRCm39) |
R3923S |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,288,767 (GRCm39) |
V3700M |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,636,400 (GRCm39) |
D1458G |
probably benign |
Het |
Mapre2 |
T |
A |
18: 24,011,090 (GRCm39) |
S233T |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,296,937 (GRCm39) |
D2699G |
possibly damaging |
Het |
Mthfr |
T |
A |
4: 148,128,947 (GRCm39) |
Y214* |
probably null |
Het |
Ncoa6 |
A |
T |
2: 155,257,041 (GRCm39) |
M834K |
possibly damaging |
Het |
Neurl2 |
C |
T |
2: 164,675,054 (GRCm39) |
D103N |
probably benign |
Het |
Niban3 |
T |
A |
8: 72,060,159 (GRCm39) |
I93N |
unknown |
Het |
Or1j15 |
T |
C |
2: 36,458,915 (GRCm39) |
Y102H |
possibly damaging |
Het |
Or2ag16 |
A |
T |
7: 106,352,571 (GRCm39) |
V8E |
probably benign |
Het |
Or2b7 |
G |
A |
13: 21,739,890 (GRCm39) |
L101F |
probably damaging |
Het |
P2ry14 |
A |
G |
3: 59,022,596 (GRCm39) |
V288A |
possibly damaging |
Het |
Pde6b |
G |
T |
5: 108,576,105 (GRCm39) |
S730I |
possibly damaging |
Het |
Pdpk1 |
A |
T |
17: 24,298,542 (GRCm39) |
V496D |
probably damaging |
Het |
Plekho2 |
A |
T |
9: 65,463,554 (GRCm39) |
L432M |
probably damaging |
Het |
Ppa2 |
T |
C |
3: 133,082,362 (GRCm39) |
L151P |
unknown |
Het |
Ppp2r3c |
G |
A |
12: 55,328,499 (GRCm39) |
T422I |
probably benign |
Het |
Prelid3a |
T |
C |
18: 67,610,122 (GRCm39) |
S151P |
probably damaging |
Het |
Rad21l |
G |
A |
2: 151,487,373 (GRCm39) |
P537L |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,450,802 (GRCm39) |
S4283T |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,373,843 (GRCm39) |
D1139E |
probably benign |
Het |
Scn9a |
G |
T |
2: 66,366,628 (GRCm39) |
H718Q |
probably benign |
Het |
Slc1a3 |
A |
T |
15: 8,668,636 (GRCm39) |
I443N |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,600,889 (GRCm39) |
M361V |
probably benign |
Het |
Slc8a2 |
A |
G |
7: 15,891,132 (GRCm39) |
Y724C |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,197,284 (GRCm39) |
S777T |
possibly damaging |
Het |
Sltm |
T |
C |
9: 70,494,352 (GRCm39) |
S901P |
probably benign |
Het |
Spast |
T |
C |
17: 74,666,341 (GRCm39) |
S225P |
probably benign |
Het |
Srsf12 |
C |
T |
4: 33,231,246 (GRCm39) |
R252W |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,179,229 (GRCm39) |
L4415P |
probably damaging |
Het |
Tmem117 |
A |
T |
15: 94,535,990 (GRCm39) |
Y8F |
probably benign |
Het |
Tmem241 |
T |
C |
18: 12,197,288 (GRCm39) |
D180G |
possibly damaging |
Het |
Tomm40 |
C |
T |
7: 19,444,890 (GRCm39) |
V164I |
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,548,841 (GRCm39) |
Y12H |
probably benign |
Het |
Twnk |
T |
C |
19: 44,996,299 (GRCm39) |
V244A |
probably benign |
Het |
Ugt1a8 |
T |
C |
1: 88,015,952 (GRCm39) |
S122P |
probably damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,539 (GRCm39) |
K50R |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,151,390 (GRCm39) |
F75L |
probably benign |
Het |
Wbp4 |
G |
T |
14: 79,707,573 (GRCm39) |
Y179* |
probably null |
Het |
Zfp106 |
A |
G |
2: 120,354,600 (GRCm39) |
|
probably null |
Het |
Zfp974 |
A |
T |
7: 27,610,361 (GRCm39) |
C455S |
possibly damaging |
Het |
|
Other mutations in Smc1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00736:Smc1b
|
APN |
15 |
85,013,901 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01293:Smc1b
|
APN |
15 |
85,016,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01656:Smc1b
|
APN |
15 |
84,998,977 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01807:Smc1b
|
APN |
15 |
84,980,946 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02094:Smc1b
|
APN |
15 |
84,982,092 (GRCm39) |
splice site |
probably benign |
|
IGL02121:Smc1b
|
APN |
15 |
84,982,186 (GRCm39) |
missense |
probably benign |
|
IGL02631:Smc1b
|
APN |
15 |
84,991,204 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02678:Smc1b
|
APN |
15 |
84,949,201 (GRCm39) |
nonsense |
probably null |
|
IGL03197:Smc1b
|
APN |
15 |
84,955,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03214:Smc1b
|
APN |
15 |
84,982,147 (GRCm39) |
nonsense |
probably null |
|
IGL03218:Smc1b
|
APN |
15 |
84,973,914 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03232:Smc1b
|
APN |
15 |
85,013,921 (GRCm39) |
missense |
possibly damaging |
0.68 |
adamantine
|
UTSW |
15 |
85,005,842 (GRCm39) |
missense |
probably benign |
0.06 |
unbreakable
|
UTSW |
15 |
84,980,859 (GRCm39) |
missense |
probably benign |
|
E0370:Smc1b
|
UTSW |
15 |
85,011,782 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4812001:Smc1b
|
UTSW |
15 |
84,953,852 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0092:Smc1b
|
UTSW |
15 |
84,951,925 (GRCm39) |
unclassified |
probably benign |
|
R0106:Smc1b
|
UTSW |
15 |
84,955,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Smc1b
|
UTSW |
15 |
84,955,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R0207:Smc1b
|
UTSW |
15 |
85,007,960 (GRCm39) |
missense |
probably benign |
|
R0390:Smc1b
|
UTSW |
15 |
84,950,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Smc1b
|
UTSW |
15 |
84,996,874 (GRCm39) |
splice site |
probably benign |
|
R0685:Smc1b
|
UTSW |
15 |
84,955,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1109:Smc1b
|
UTSW |
15 |
84,997,016 (GRCm39) |
missense |
probably damaging |
0.98 |
R1392:Smc1b
|
UTSW |
15 |
84,991,271 (GRCm39) |
splice site |
probably benign |
|
R1509:Smc1b
|
UTSW |
15 |
84,970,335 (GRCm39) |
missense |
probably benign |
|
R1804:Smc1b
|
UTSW |
15 |
85,011,991 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1879:Smc1b
|
UTSW |
15 |
84,976,268 (GRCm39) |
missense |
probably benign |
0.01 |
R2086:Smc1b
|
UTSW |
15 |
85,006,052 (GRCm39) |
splice site |
probably benign |
|
R2143:Smc1b
|
UTSW |
15 |
85,008,003 (GRCm39) |
missense |
probably benign |
|
R2158:Smc1b
|
UTSW |
15 |
85,006,052 (GRCm39) |
splice site |
probably benign |
|
R2174:Smc1b
|
UTSW |
15 |
85,006,052 (GRCm39) |
splice site |
probably benign |
|
R2471:Smc1b
|
UTSW |
15 |
84,976,218 (GRCm39) |
missense |
probably damaging |
0.98 |
R3689:Smc1b
|
UTSW |
15 |
85,001,464 (GRCm39) |
intron |
probably benign |
|
R3690:Smc1b
|
UTSW |
15 |
85,001,464 (GRCm39) |
intron |
probably benign |
|
R4178:Smc1b
|
UTSW |
15 |
85,004,848 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4420:Smc1b
|
UTSW |
15 |
84,997,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R4905:Smc1b
|
UTSW |
15 |
84,950,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4919:Smc1b
|
UTSW |
15 |
85,001,305 (GRCm39) |
intron |
probably benign |
|
R5114:Smc1b
|
UTSW |
15 |
84,949,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5314:Smc1b
|
UTSW |
15 |
84,955,066 (GRCm39) |
missense |
probably benign |
0.00 |
R5476:Smc1b
|
UTSW |
15 |
84,970,352 (GRCm39) |
missense |
probably damaging |
0.97 |
R5593:Smc1b
|
UTSW |
15 |
85,005,842 (GRCm39) |
missense |
probably benign |
0.06 |
R5690:Smc1b
|
UTSW |
15 |
84,996,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Smc1b
|
UTSW |
15 |
84,980,859 (GRCm39) |
missense |
probably benign |
|
R5817:Smc1b
|
UTSW |
15 |
84,951,984 (GRCm39) |
missense |
probably damaging |
0.99 |
R5834:Smc1b
|
UTSW |
15 |
84,973,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R5930:Smc1b
|
UTSW |
15 |
84,970,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Smc1b
|
UTSW |
15 |
84,950,430 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6032:Smc1b
|
UTSW |
15 |
84,950,430 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6049:Smc1b
|
UTSW |
15 |
85,005,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Smc1b
|
UTSW |
15 |
85,011,824 (GRCm39) |
missense |
probably benign |
0.30 |
R6392:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6426:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6435:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6436:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6437:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6508:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6512:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6703:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6737:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
R6775:Smc1b
|
UTSW |
15 |
84,973,881 (GRCm39) |
missense |
probably damaging |
0.96 |
R6889:Smc1b
|
UTSW |
15 |
84,951,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R6908:Smc1b
|
UTSW |
15 |
84,991,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Smc1b
|
UTSW |
15 |
84,955,798 (GRCm39) |
missense |
probably damaging |
0.98 |
R7400:Smc1b
|
UTSW |
15 |
84,953,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Smc1b
|
UTSW |
15 |
84,981,743 (GRCm39) |
missense |
probably benign |
0.05 |
R7610:Smc1b
|
UTSW |
15 |
84,955,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7873:Smc1b
|
UTSW |
15 |
84,994,851 (GRCm39) |
critical splice donor site |
probably null |
|
R7890:Smc1b
|
UTSW |
15 |
84,950,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8004:Smc1b
|
UTSW |
15 |
84,981,815 (GRCm39) |
missense |
probably damaging |
0.98 |
R8826:Smc1b
|
UTSW |
15 |
84,950,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8835:Smc1b
|
UTSW |
15 |
85,013,949 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8925:Smc1b
|
UTSW |
15 |
84,991,273 (GRCm39) |
splice site |
probably null |
|
R9059:Smc1b
|
UTSW |
15 |
85,004,875 (GRCm39) |
nonsense |
probably null |
|
R9149:Smc1b
|
UTSW |
15 |
84,950,431 (GRCm39) |
missense |
probably benign |
0.00 |
R9241:Smc1b
|
UTSW |
15 |
84,976,209 (GRCm39) |
missense |
probably benign |
0.00 |
R9245:Smc1b
|
UTSW |
15 |
85,004,846 (GRCm39) |
missense |
probably benign |
0.03 |
R9301:Smc1b
|
UTSW |
15 |
85,011,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R9384:Smc1b
|
UTSW |
15 |
84,950,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R9750:Smc1b
|
UTSW |
15 |
85,016,106 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Smc1b
|
UTSW |
15 |
85,016,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTTTGGAGCAATAAAGGC -3'
(R):5'- AAGCAGTCAAGAGGTTGTCC -3'
Sequencing Primer
(F):5'- GAGCAATAAAGGCATTAAATTTGGC -3'
(R):5'- GCAGTCAAGAGGTTGTCCATTATC -3'
|
Posted On |
2021-04-30 |