Incidental Mutation 'R2174:Smc1b'
ID |
237732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
040176-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R2174 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 85006052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432
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 |
noncoding transcript
Transcript: ENSMUST00000105085
|
SMART Domains |
Protein: ENSMUSP00000100709 Gene: ENSMUSG00000078289
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L23eN
|
13 |
64 |
1.4e-26 |
PFAM |
Pfam:Ribosomal_L23
|
72 |
139 |
4e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
99% (73/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C10Rik |
T |
C |
7: 37,894,252 (GRCm39) |
I95T |
possibly damaging |
Het |
Adarb1 |
A |
G |
10: 77,131,632 (GRCm39) |
I619T |
probably benign |
Het |
Aldh2 |
T |
C |
5: 121,710,731 (GRCm39) |
|
probably benign |
Het |
Antxrl |
T |
A |
14: 33,782,357 (GRCm39) |
L180Q |
probably damaging |
Het |
Asnsd1 |
A |
T |
1: 53,386,760 (GRCm39) |
I289N |
probably benign |
Het |
Asxl3 |
T |
G |
18: 22,586,701 (GRCm39) |
S164A |
possibly damaging |
Het |
Cacnb2 |
C |
T |
2: 14,963,578 (GRCm39) |
T108I |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,307,290 (GRCm39) |
I516N |
probably benign |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Cenpo |
T |
C |
12: 4,267,318 (GRCm39) |
K73R |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,558,109 (GRCm38) |
I159V |
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,487,825 (GRCm39) |
H823R |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,937,331 (GRCm39) |
D1395G |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,409,175 (GRCm39) |
I404V |
probably damaging |
Het |
Ddx60 |
G |
T |
8: 62,470,234 (GRCm39) |
M1407I |
probably benign |
Het |
Dennd3 |
A |
T |
15: 73,427,154 (GRCm39) |
R844W |
probably damaging |
Het |
Depdc1b |
A |
T |
13: 108,498,787 (GRCm39) |
K157* |
probably null |
Het |
Dnai7 |
T |
C |
6: 145,120,896 (GRCm39) |
H641R |
probably damaging |
Het |
Dnajc1 |
T |
C |
2: 18,312,762 (GRCm39) |
D196G |
probably damaging |
Het |
Fanca |
A |
G |
8: 123,998,009 (GRCm39) |
W1226R |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,787,046 (GRCm39) |
V297A |
possibly damaging |
Het |
Fnta |
A |
T |
8: 26,503,498 (GRCm39) |
F96I |
possibly damaging |
Het |
Fzd3 |
T |
C |
14: 65,449,680 (GRCm39) |
|
probably benign |
Het |
Gckr |
T |
C |
5: 31,484,353 (GRCm39) |
V597A |
possibly damaging |
Het |
Gm43302 |
T |
C |
5: 105,422,216 (GRCm39) |
K496R |
probably benign |
Het |
Gm5283 |
A |
G |
3: 17,285,005 (GRCm39) |
|
noncoding transcript |
Het |
Gm6741 |
A |
G |
17: 91,544,332 (GRCm39) |
I32V |
probably benign |
Het |
Gnptab |
T |
A |
10: 88,269,906 (GRCm39) |
F870I |
probably damaging |
Het |
Gpx8 |
G |
A |
13: 113,182,140 (GRCm39) |
P98S |
probably benign |
Het |
Grm2 |
T |
C |
9: 106,524,994 (GRCm39) |
I574V |
probably benign |
Het |
Gtf3c5 |
T |
C |
2: 28,457,787 (GRCm39) |
D468G |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,856,898 (GRCm39) |
M482L |
probably benign |
Het |
Ier5 |
G |
T |
1: 154,974,599 (GRCm39) |
P193H |
possibly damaging |
Het |
Inpp4a |
A |
G |
1: 37,435,211 (GRCm39) |
N827S |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,922,652 (GRCm39) |
L387P |
probably damaging |
Het |
Map3k1 |
G |
C |
13: 111,889,016 (GRCm39) |
H1314D |
possibly damaging |
Het |
Mbl2 |
G |
A |
19: 30,211,412 (GRCm39) |
C11Y |
possibly damaging |
Het |
Msr1 |
A |
G |
8: 40,084,381 (GRCm39) |
L58P |
probably damaging |
Het |
Mtmr10 |
T |
A |
7: 63,986,512 (GRCm39) |
F530Y |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,116,610 (GRCm39) |
L999P |
probably damaging |
Het |
Myoz3 |
T |
C |
18: 60,723,296 (GRCm39) |
E8G |
probably benign |
Het |
Naip6 |
C |
A |
13: 100,435,495 (GRCm39) |
M1009I |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,102,411 (GRCm39) |
M342K |
probably damaging |
Het |
Ndufaf6 |
T |
C |
4: 11,070,228 (GRCm39) |
H131R |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,148,849 (GRCm39) |
L152P |
probably damaging |
Het |
Or9s23 |
A |
G |
1: 92,501,379 (GRCm39) |
N162S |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
Prkdc |
A |
T |
16: 15,552,786 (GRCm39) |
Q2074L |
probably benign |
Het |
Pthlh |
G |
A |
6: 147,158,510 (GRCm39) |
T150I |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,541,414 (GRCm39) |
Y371N |
probably damaging |
Het |
Rfwd3 |
A |
G |
8: 112,009,975 (GRCm39) |
S377P |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Sap130 |
T |
C |
18: 31,810,532 (GRCm39) |
|
probably null |
Het |
Sap25 |
T |
G |
5: 137,640,891 (GRCm39) |
M229R |
possibly damaging |
Het |
Scaper |
A |
T |
9: 55,766,321 (GRCm39) |
V479E |
probably null |
Het |
Scn3a |
T |
A |
2: 65,337,550 (GRCm39) |
D649V |
probably damaging |
Het |
Slco1a7 |
A |
T |
6: 141,673,319 (GRCm39) |
Y406* |
probably null |
Het |
Sowahb |
T |
C |
5: 93,192,284 (GRCm39) |
E145G |
possibly damaging |
Het |
Stxbp5 |
T |
A |
10: 9,711,590 (GRCm39) |
I277F |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,674,177 (GRCm39) |
S1754P |
possibly damaging |
Het |
Tanc2 |
A |
G |
11: 105,801,135 (GRCm39) |
D1117G |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,815,137 (GRCm39) |
M605V |
possibly damaging |
Het |
Tekt3 |
A |
T |
11: 62,985,514 (GRCm39) |
D440V |
possibly damaging |
Het |
Tmem67 |
C |
T |
4: 12,063,730 (GRCm39) |
W477* |
probably null |
Het |
Tra2a |
T |
C |
6: 49,227,861 (GRCm39) |
|
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,380 (GRCm39) |
F51L |
possibly damaging |
Het |
Trrap |
C |
A |
5: 144,758,665 (GRCm39) |
P2183Q |
probably benign |
Het |
Ubn2 |
T |
A |
6: 38,447,076 (GRCm39) |
|
probably null |
Het |
Unc5d |
A |
T |
8: 29,184,568 (GRCm39) |
V644E |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,827,547 (GRCm39) |
L883P |
probably damaging |
Het |
Zbbx |
T |
G |
3: 74,959,721 (GRCm39) |
D616A |
possibly damaging |
Het |
Zfp943 |
T |
A |
17: 22,211,804 (GRCm39) |
C297S |
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 |
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 |
|
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'- AGCCAGTTCTGCCACTAAGG -3'
(R):5'- TGCCTAACAATCTCTGCAAGC -3'
Sequencing Primer
(F):5'- GCTCGTATGCCATCTTCCTG -3'
(R):5'- CAAAATTGCTTTCATTTTGGCCAGGG -3'
|
Posted On |
2014-10-02 |