Incidental Mutation 'R7400:Smc1b'
ID |
574127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
045482-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R7400 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84953921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1116
(R1116L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000227591]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023068
AA Change: R1116L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: R1116L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227591
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (69/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,496,547 (GRCm39) |
S118P |
unknown |
Het |
Ahnak |
T |
A |
19: 8,991,977 (GRCm39) |
D4420E |
probably damaging |
Het |
Atp5mc2 |
C |
T |
15: 102,573,547 (GRCm39) |
A90T |
possibly damaging |
Het |
Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
Cd48 |
G |
A |
1: 171,523,493 (GRCm39) |
R112H |
probably benign |
Het |
Cdh8 |
A |
T |
8: 100,006,192 (GRCm39) |
Y132N |
probably damaging |
Het |
Cfap70 |
A |
C |
14: 20,458,335 (GRCm39) |
S793A |
probably benign |
Het |
Cmip |
A |
G |
8: 117,984,144 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
T |
C |
9: 57,589,223 (GRCm39) |
N197S |
probably benign |
Het |
Diaph1 |
T |
C |
18: 37,987,555 (GRCm39) |
D1067G |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,622,367 (GRCm39) |
L1033P |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,713,103 (GRCm39) |
A1981D |
possibly damaging |
Het |
Eci3 |
T |
C |
13: 35,143,960 (GRCm39) |
D55G |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,831,432 (GRCm39) |
D174E |
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,581 (GRCm39) |
E406G |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,468,214 (GRCm39) |
K889E |
|
Het |
Fat4 |
C |
A |
3: 38,942,073 (GRCm39) |
T322K |
probably damaging |
Het |
Fitm1 |
A |
T |
14: 55,814,226 (GRCm39) |
I241F |
possibly damaging |
Het |
Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
Gpsm2 |
T |
A |
3: 108,587,004 (GRCm39) |
D644V |
probably damaging |
Het |
Gucy2d |
C |
A |
7: 98,092,847 (GRCm39) |
L75M |
possibly damaging |
Het |
Gvin2 |
T |
A |
7: 105,551,247 (GRCm39) |
I602F |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,550,181 (GRCm39) |
I2668V |
probably damaging |
Het |
Hoxa7 |
A |
G |
6: 52,194,033 (GRCm39) |
I118T |
possibly damaging |
Het |
Hsp90ab1 |
A |
G |
17: 45,880,210 (GRCm39) |
V473A |
probably benign |
Het |
Ica1l |
T |
C |
1: 60,081,801 (GRCm39) |
|
probably null |
Het |
Ighv1-72 |
A |
G |
12: 115,721,837 (GRCm39) |
S40P |
probably damaging |
Het |
Inhca |
T |
A |
9: 103,127,861 (GRCm39) |
E690V |
probably benign |
Het |
Kif28 |
A |
C |
1: 179,527,839 (GRCm39) |
W771G |
probably damaging |
Het |
Klf13 |
G |
C |
7: 63,587,996 (GRCm39) |
A100G |
probably benign |
Het |
Klhl5 |
A |
G |
5: 65,305,933 (GRCm39) |
E300G |
possibly damaging |
Het |
Krt40 |
A |
G |
11: 99,433,969 (GRCm39) |
S6P |
probably benign |
Het |
Map3k13 |
C |
T |
16: 21,741,072 (GRCm39) |
R800W |
probably damaging |
Het |
Mef2d |
T |
C |
3: 88,075,038 (GRCm39) |
L408P |
possibly damaging |
Het |
Mmp10 |
T |
A |
9: 7,503,301 (GRCm39) |
M87K |
probably damaging |
Het |
Mrgprd |
T |
A |
7: 144,875,643 (GRCm39) |
H171Q |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,137,953 (GRCm39) |
T265I |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,750,939 (GRCm39) |
N570D |
|
Het |
Nfs1 |
T |
A |
2: 155,968,243 (GRCm39) |
I408F |
probably damaging |
Het |
Npdc1 |
G |
T |
2: 25,296,257 (GRCm39) |
C48F |
probably damaging |
Het |
Or2j3 |
A |
T |
17: 38,616,222 (GRCm39) |
N43K |
possibly damaging |
Het |
Or52e7 |
T |
C |
7: 104,684,417 (GRCm39) |
I4T |
probably benign |
Het |
Or52j3 |
T |
C |
7: 102,836,587 (GRCm39) |
S260P |
probably damaging |
Het |
Or9a2 |
A |
T |
6: 41,748,678 (GRCm39) |
L185H |
probably damaging |
Het |
Osbpl2 |
T |
C |
2: 179,795,114 (GRCm39) |
M332T |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,574,213 (GRCm39) |
V302D |
probably damaging |
Het |
Otof |
T |
C |
5: 30,542,532 (GRCm39) |
D672G |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,201,762 (GRCm39) |
K392* |
probably null |
Het |
Pnpla1 |
A |
T |
17: 29,077,950 (GRCm39) |
D37V |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,129,026 (GRCm39) |
S198P |
probably damaging |
Het |
Reln |
A |
T |
5: 22,176,932 (GRCm39) |
N1911K |
probably damaging |
Het |
Ripply3 |
C |
A |
16: 94,136,759 (GRCm39) |
A140E |
probably benign |
Het |
Siglec1 |
A |
G |
2: 130,928,015 (GRCm39) |
C8R |
possibly damaging |
Het |
Slamf6 |
T |
C |
1: 171,747,360 (GRCm39) |
S41P |
unknown |
Het |
Slc15a5 |
A |
G |
6: 138,050,055 (GRCm39) |
M120T |
probably benign |
Het |
Slc25a20 |
T |
G |
9: 108,559,172 (GRCm39) |
D179E |
possibly damaging |
Het |
Sltm |
T |
A |
9: 70,493,352 (GRCm39) |
V783E |
probably damaging |
Het |
Smim23 |
A |
G |
11: 32,774,471 (GRCm39) |
V16A |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
Spen |
T |
C |
4: 141,201,052 (GRCm39) |
D2525G |
probably damaging |
Het |
St14 |
A |
C |
9: 31,019,571 (GRCm39) |
N83K |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,879,341 (GRCm39) |
N713S |
probably null |
Het |
Syne1 |
A |
T |
10: 5,168,580 (GRCm39) |
L5267H |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,344,010 (GRCm39) |
L271P |
probably damaging |
Het |
Tfap2d |
C |
T |
1: 19,213,150 (GRCm39) |
H325Y |
possibly damaging |
Het |
Trav23 |
A |
G |
14: 54,215,020 (GRCm39) |
R78G |
probably benign |
Het |
Ttc39c |
A |
T |
18: 12,776,856 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,070,889 (GRCm39) |
D1228G |
probably damaging |
Het |
Vmn1r66 |
T |
A |
7: 10,008,874 (GRCm39) |
H53L |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,379,046 (GRCm39) |
L53F |
probably damaging |
Het |
Zfp532 |
C |
T |
18: 65,771,984 (GRCm39) |
T834M |
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 |
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 |
R8698:Smc1b
|
UTSW |
15 |
84,997,047 (GRCm39) |
missense |
probably benign |
0.16 |
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'- TGACTGGAAGGATAGCTTTGC -3'
(R):5'- TGCACAACTAAGTGGATTTACAGG -3'
Sequencing Primer
(F):5'- GTAACTTGCTGTGGCCTT -3'
(R):5'- TTTTTCCCATCAAAACTGAGGAAACC -3'
|
Posted On |
2019-09-13 |