Incidental Mutation 'R1879:Smc1b'
ID |
211433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
039900-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R1879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84976268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 813
(Q813L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000227591]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: Q813L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: Q813L
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: 97.3%
- 3x: 96.6%
- 10x: 94.9%
- 20x: 91.6%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,686,488 (GRCm39) |
D268G |
possibly damaging |
Het |
Abce1 |
T |
C |
8: 80,414,085 (GRCm39) |
N542S |
probably benign |
Het |
Abcf1 |
T |
A |
17: 36,272,704 (GRCm39) |
E260D |
probably benign |
Het |
Ahcy |
A |
G |
2: 154,906,072 (GRCm39) |
|
probably null |
Het |
Akap13 |
C |
T |
7: 75,260,475 (GRCm39) |
A1033V |
probably benign |
Het |
Alkbh6 |
A |
G |
7: 30,011,320 (GRCm39) |
N46S |
probably damaging |
Het |
Ankrd34c |
A |
C |
9: 89,612,126 (GRCm39) |
L72V |
probably damaging |
Het |
Arf4 |
T |
A |
14: 26,368,076 (GRCm39) |
N25K |
probably damaging |
Het |
Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
Cavin1 |
C |
A |
11: 100,861,036 (GRCm39) |
G86V |
probably damaging |
Het |
Ces1d |
G |
A |
8: 93,916,126 (GRCm39) |
T167I |
probably benign |
Het |
Cfb |
T |
C |
17: 35,079,536 (GRCm39) |
I754V |
probably benign |
Het |
Clcnkb |
C |
T |
4: 141,135,130 (GRCm39) |
R536H |
possibly damaging |
Het |
Clpb |
T |
G |
7: 101,355,690 (GRCm39) |
S181R |
probably benign |
Het |
Col1a1 |
T |
C |
11: 94,842,051 (GRCm39) |
M1366T |
unknown |
Het |
Cped1 |
T |
A |
6: 22,085,014 (GRCm39) |
|
probably null |
Het |
Crip1 |
G |
A |
12: 113,116,952 (GRCm39) |
C82Y |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,520,915 (GRCm39) |
T2810A |
possibly damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,897,994 (GRCm39) |
D266V |
probably damaging |
Het |
Cyp46a1 |
A |
G |
12: 108,319,385 (GRCm39) |
D294G |
probably damaging |
Het |
Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,227,924 (GRCm39) |
E1514G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,591,070 (GRCm39) |
E1046G |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,506,726 (GRCm39) |
V4A |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,338,567 (GRCm39) |
R287* |
probably null |
Het |
Fuca2 |
T |
A |
10: 13,383,000 (GRCm39) |
C323S |
possibly damaging |
Het |
Ggt7 |
T |
C |
2: 155,356,707 (GRCm39) |
E4G |
possibly damaging |
Het |
Gli1 |
C |
T |
10: 127,169,606 (GRCm39) |
R383H |
probably damaging |
Het |
Gm4559 |
C |
A |
7: 141,827,998 (GRCm39) |
V35F |
unknown |
Het |
Gpm6a |
T |
A |
8: 55,490,365 (GRCm39) |
C14S |
probably damaging |
Het |
Hcn2 |
A |
T |
10: 79,562,023 (GRCm39) |
I340F |
probably benign |
Het |
Hdac9 |
T |
A |
12: 34,440,332 (GRCm39) |
D349V |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,929,118 (GRCm39) |
D364G |
possibly damaging |
Het |
Mon2 |
C |
T |
10: 122,838,790 (GRCm39) |
R1565H |
probably damaging |
Het |
Myb |
T |
A |
10: 21,017,876 (GRCm39) |
M482L |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,373,028 (GRCm39) |
I294F |
probably benign |
Het |
Nr2e1 |
A |
G |
10: 42,444,367 (GRCm39) |
|
probably null |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or1r1 |
T |
A |
11: 73,875,368 (GRCm39) |
D22V |
probably benign |
Het |
Or4k38 |
A |
T |
2: 111,165,808 (GRCm39) |
I205N |
possibly damaging |
Het |
Or52h7 |
T |
C |
7: 104,214,118 (GRCm39) |
V230A |
possibly damaging |
Het |
Pde8b |
A |
T |
13: 95,221,723 (GRCm39) |
I308N |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,986 (GRCm39) |
R2050G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 30,968,607 (GRCm39) |
S840I |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,247,031 (GRCm39) |
Y327F |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,732,516 (GRCm39) |
I460F |
probably benign |
Het |
Pphln1 |
T |
G |
15: 93,321,927 (GRCm39) |
D35E |
probably damaging |
Het |
Prdm6 |
G |
A |
18: 53,701,289 (GRCm39) |
V360I |
probably damaging |
Het |
Rab35 |
T |
A |
5: 115,778,219 (GRCm39) |
W62R |
probably damaging |
Het |
Sct |
G |
T |
7: 140,858,612 (GRCm39) |
P70Q |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,094,304 (GRCm39) |
N328S |
probably damaging |
Het |
Senp5 |
A |
T |
16: 31,802,642 (GRCm39) |
S488R |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,375,213 (GRCm39) |
E95G |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,618,392 (GRCm39) |
A442V |
probably benign |
Het |
Sgcd |
T |
C |
11: 47,246,068 (GRCm39) |
I45V |
probably benign |
Het |
Sgcg |
T |
C |
14: 61,474,346 (GRCm39) |
|
probably null |
Het |
Slc39a12 |
G |
T |
2: 14,448,868 (GRCm39) |
V489L |
probably benign |
Het |
Slc5a11 |
T |
A |
7: 122,838,671 (GRCm39) |
I96N |
possibly damaging |
Het |
Slc6a12 |
A |
G |
6: 121,324,382 (GRCm39) |
D2G |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
Smarcd3 |
C |
A |
5: 24,798,019 (GRCm39) |
C465F |
probably damaging |
Het |
Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,885,540 (GRCm39) |
N715I |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,397,006 (GRCm39) |
Y782N |
probably damaging |
Het |
Thap3 |
A |
T |
4: 152,067,593 (GRCm39) |
C162S |
probably benign |
Het |
Topaz1 |
T |
A |
9: 122,578,684 (GRCm39) |
D531E |
possibly damaging |
Het |
Vmn1r25 |
C |
T |
6: 57,955,912 (GRCm39) |
A126T |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,074 (GRCm39) |
F1637L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,310,206 (GRCm39) |
Y780C |
possibly damaging |
Het |
Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
Zfp956 |
A |
T |
6: 47,940,678 (GRCm39) |
T346S |
probably benign |
Het |
Zkscan1 |
C |
T |
5: 138,095,410 (GRCm39) |
A219V |
probably 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 |
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 |
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'- AGAAGCCATAACTTCAACGAACTGG -3'
(R):5'- GGCAATGGCAGTGATTATATTAAGG -3'
Sequencing Primer
(F):5'- GAACTGGCACTTCAGCTACTG -3'
(R):5'- CAGAGAACACTTACTGCTCTTGGAG -3'
|
Posted On |
2014-06-30 |