Incidental Mutation 'R7873:Smc1b'
| ID |
608282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc1b
|
| Ensembl Gene |
ENSMUSG00000022432 |
| Gene Name |
structural maintenance of chromosomes 1B |
| Synonyms |
Smc1l2, SMC1beta |
| MMRRC Submission |
045925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R7873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 84994851 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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,684,091 (GRCm39) |
I229F |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,888,792 (GRCm39) |
L1246S |
probably benign |
Het |
| Abtb3 |
T |
C |
10: 85,466,989 (GRCm39) |
V685A |
possibly damaging |
Het |
| Acacb |
A |
C |
5: 114,361,339 (GRCm39) |
S1340R |
possibly damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,806,499 (GRCm39) |
S585T |
possibly damaging |
Het |
| Ark2c |
T |
C |
18: 77,554,449 (GRCm39) |
D248G |
possibly damaging |
Het |
| Ccdc54 |
A |
G |
16: 50,410,672 (GRCm39) |
V198A |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,056,249 (GRCm39) |
I387V |
probably damaging |
Het |
| Creg1 |
G |
T |
1: 165,597,448 (GRCm39) |
D141Y |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,166 (GRCm39) |
L220P |
probably benign |
Het |
| Dennd5a |
T |
A |
7: 109,526,141 (GRCm39) |
I344F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,060,747 (GRCm39) |
N448S |
probably benign |
Het |
| Efcab6 |
A |
G |
15: 83,902,826 (GRCm39) |
|
probably null |
Het |
| Elf2 |
C |
A |
3: 51,164,099 (GRCm39) |
V489F |
probably damaging |
Het |
| Elmod2 |
G |
T |
8: 84,057,848 (GRCm39) |
H12N |
probably benign |
Het |
| Eln |
C |
T |
5: 134,740,041 (GRCm39) |
G618E |
unknown |
Het |
| Fbxo33 |
G |
T |
12: 59,265,807 (GRCm39) |
S153R |
possibly damaging |
Het |
| Fbxw7 |
A |
T |
3: 84,833,071 (GRCm39) |
I38F |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,456,990 (GRCm39) |
V2329I |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,173,934 (GRCm39) |
E825G |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,077,552 (GRCm39) |
M405K |
probably benign |
Het |
| H2bc7 |
A |
T |
13: 23,758,244 (GRCm39) |
Y41N |
probably damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,883 (GRCm39) |
V597A |
possibly damaging |
Het |
| Ido1 |
A |
G |
8: 25,074,758 (GRCm39) |
F295S |
probably damaging |
Het |
| Ighe |
T |
A |
12: 113,234,942 (GRCm39) |
E406V |
|
Het |
| Ighv1-31 |
G |
T |
12: 114,793,274 (GRCm39) |
A15E |
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,988 (GRCm39) |
L10H |
probably damaging |
Het |
| Inpp5e |
T |
A |
2: 26,297,957 (GRCm39) |
K215* |
probably null |
Het |
| Iqcn |
A |
G |
8: 71,163,989 (GRCm39) |
M1061V |
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,391 (GRCm39) |
T288I |
probably benign |
Het |
| Lrwd1 |
A |
T |
5: 136,152,792 (GRCm39) |
I490N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,398,344 (GRCm39) |
|
probably null |
Het |
| Mapk8ip3 |
A |
G |
17: 25,125,146 (GRCm39) |
V482A |
probably benign |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Mdk |
A |
G |
2: 91,761,773 (GRCm39) |
F7S |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,393,582 (GRCm39) |
P2993L |
probably damaging |
Het |
| Niban3 |
A |
T |
8: 72,054,892 (GRCm39) |
I193F |
probably damaging |
Het |
| Nme4 |
A |
T |
17: 26,312,862 (GRCm39) |
Y99N |
probably damaging |
Het |
| Nr1d2 |
G |
A |
14: 18,216,656 (GRCm38) |
R171* |
probably null |
Het |
| Or10h28 |
A |
G |
17: 33,488,348 (GRCm39) |
I217V |
probably benign |
Het |
| Osgep |
G |
T |
14: 51,153,347 (GRCm39) |
T326K |
probably damaging |
Het |
| Pdgfd |
C |
T |
9: 6,337,271 (GRCm39) |
T201M |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,086 (GRCm39) |
D320G |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,285,552 (GRCm39) |
V772D |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,724 (GRCm39) |
R1737S |
probably benign |
Het |
| Ppp1r13b |
A |
T |
12: 111,801,320 (GRCm39) |
Y578N |
probably damaging |
Het |
| Ppp1r3b |
A |
C |
8: 35,851,329 (GRCm39) |
K56T |
probably benign |
Het |
| Prdm11 |
G |
T |
2: 92,819,628 (GRCm39) |
H261N |
probably benign |
Het |
| Preb |
T |
A |
5: 31,116,109 (GRCm39) |
N166I |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,335,634 (GRCm39) |
K681R |
possibly damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,141,292 (GRCm39) |
V580I |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,407,737 (GRCm39) |
S949T |
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,798,802 (GRCm39) |
E973G |
possibly damaging |
Het |
| Rdh1 |
A |
G |
10: 127,595,892 (GRCm39) |
D29G |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,957 (GRCm39) |
S359P |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,560,773 (GRCm39) |
H2996L |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,371,103 (GRCm39) |
C323Y |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,327,193 (GRCm39) |
R1309H |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,881,469 (GRCm39) |
V202E |
probably damaging |
Het |
| Shh |
A |
G |
5: 28,663,298 (GRCm39) |
L290P |
possibly damaging |
Het |
| Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,215,714 (GRCm39) |
G42R |
probably benign |
Het |
| Slc41a1 |
A |
G |
1: 131,758,561 (GRCm39) |
N68D |
possibly damaging |
Het |
| Slc7a6os |
A |
G |
8: 106,937,356 (GRCm39) |
S64P |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,673,448 (GRCm39) |
L363F |
probably benign |
Het |
| Snx9 |
T |
C |
17: 5,968,751 (GRCm39) |
V349A |
possibly damaging |
Het |
| Sstr1 |
G |
T |
12: 58,260,313 (GRCm39) |
G312V |
probably damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,808 (GRCm39) |
I290V |
probably benign |
Het |
| Trio |
A |
G |
15: 27,805,770 (GRCm39) |
C1717R |
possibly damaging |
Het |
| Ttbk1 |
T |
G |
17: 46,757,494 (GRCm39) |
S1047R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,746,877 (GRCm39) |
D4724G |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 825,542 (GRCm39) |
N301K |
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,533,310 (GRCm39) |
T853A |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,855,969 (GRCm39) |
M458K |
probably damaging |
Het |
| Zdhhc14 |
A |
T |
17: 5,762,729 (GRCm39) |
Y211F |
probably benign |
Het |
| Zfp108 |
G |
A |
7: 23,960,758 (GRCm39) |
V450I |
probably benign |
Het |
| Zfp212 |
A |
T |
6: 47,907,860 (GRCm39) |
R280* |
probably null |
Het |
| Zfp940 |
A |
T |
7: 29,535,042 (GRCm39) |
V108E |
unknown |
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 |
|
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'- GGACATTTATTCCACACAAAGGG -3'
(R):5'- CCAATCAATGAACGACTAAGGG -3'
Sequencing Primer
(F):5'- GATAATGCATGTCTCTGATCCCAG -3'
(R):5'- CGACTAAGGGAAATTAAAGGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation