Incidental Mutation 'R5593:Smc1b'
| ID |
437658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc1b
|
| Ensembl Gene |
ENSMUSG00000022432 |
| Gene Name |
structural maintenance of chromosomes 1B |
| Synonyms |
Smc1l2, SMC1beta |
| MMRRC Submission |
043145-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.696)
|
| Stock # |
R5593 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85005842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 354
(M354R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
| AlphaFold |
Q920F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: M354R
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: M354R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (71/71) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
| Anpep |
T |
G |
7: 79,491,794 (GRCm39) |
K69T |
probably benign |
Het |
| Appbp2 |
A |
T |
11: 85,085,409 (GRCm39) |
I499K |
possibly damaging |
Het |
| Copb2 |
A |
G |
9: 98,469,091 (GRCm39) |
|
probably null |
Het |
| Cpa5 |
T |
C |
6: 30,630,848 (GRCm39) |
I370T |
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,078,898 (GRCm39) |
T268A |
probably benign |
Het |
| Ctbp2 |
C |
A |
7: 132,600,598 (GRCm39) |
R99I |
possibly damaging |
Het |
| Cul1 |
G |
A |
6: 47,462,020 (GRCm39) |
W196* |
probably null |
Het |
| Cul1 |
T |
C |
6: 47,491,925 (GRCm39) |
F402L |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dyrk1a |
C |
A |
16: 94,460,442 (GRCm39) |
Q33K |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,316,350 (GRCm39) |
L27Q |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,000,689 (GRCm39) |
S542T |
probably damaging |
Het |
| Eps8l3 |
A |
T |
3: 107,798,504 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,544,321 (GRCm39) |
H690R |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,524,259 (GRCm39) |
|
probably benign |
Het |
| Gadl1 |
G |
T |
9: 115,835,718 (GRCm39) |
G382V |
probably damaging |
Het |
| Gbf1 |
A |
G |
19: 46,260,963 (GRCm39) |
Q1176R |
possibly damaging |
Het |
| Gdf9 |
A |
T |
11: 53,324,558 (GRCm39) |
H109L |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,738,856 (GRCm39) |
V411D |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,460,504 (GRCm39) |
|
probably benign |
Het |
| Ifrd2 |
A |
G |
9: 107,467,374 (GRCm39) |
D82G |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,161,661 (GRCm39) |
S596P |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,546,096 (GRCm39) |
V8A |
possibly damaging |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,393 (GRCm39) |
T229I |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,350,415 (GRCm39) |
F21L |
probably benign |
Het |
| Mefv |
A |
T |
16: 3,533,315 (GRCm39) |
C319S |
probably benign |
Het |
| Mettl23 |
T |
A |
11: 116,734,593 (GRCm39) |
V54D |
probably damaging |
Het |
| Mul1 |
A |
G |
4: 138,166,543 (GRCm39) |
D199G |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,260,130 (GRCm39) |
I266N |
probably damaging |
Het |
| Nek10 |
A |
T |
14: 14,980,544 (GRCm38) |
K967* |
probably null |
Het |
| Nrcam |
A |
G |
12: 44,606,483 (GRCm39) |
T410A |
probably damaging |
Het |
| Or1p1 |
A |
G |
11: 74,179,618 (GRCm39) |
I49V |
possibly damaging |
Het |
| Or2b11 |
T |
C |
11: 59,461,874 (GRCm39) |
R231G |
possibly damaging |
Het |
| Or52d13 |
C |
T |
7: 103,109,592 (GRCm39) |
|
silent |
Het |
| Or52e4 |
T |
C |
7: 104,705,711 (GRCm39) |
I86T |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,778 (GRCm39) |
D24V |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,932,117 (GRCm39) |
I1124V |
possibly damaging |
Het |
| Ptprc |
A |
T |
1: 138,045,458 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,257,378 (GRCm39) |
|
probably benign |
Het |
| Rnf208 |
G |
T |
2: 25,133,345 (GRCm39) |
W13L |
possibly damaging |
Het |
| Rps6kl1 |
G |
T |
12: 85,193,675 (GRCm39) |
Q139K |
possibly damaging |
Het |
| Sdk1 |
T |
A |
5: 141,941,879 (GRCm39) |
I509N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,898,098 (GRCm39) |
I170V |
probably benign |
Het |
| Slc17a8 |
C |
T |
10: 89,442,702 (GRCm39) |
D44N |
probably benign |
Het |
| Slc23a1 |
T |
A |
18: 35,755,349 (GRCm39) |
I489F |
probably damaging |
Het |
| Slc25a19 |
A |
T |
11: 115,507,418 (GRCm39) |
Y235N |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,233,486 (GRCm39) |
V40A |
probably benign |
Het |
| Slurp2 |
C |
T |
15: 74,614,917 (GRCm39) |
V75I |
probably benign |
Het |
| Spice1 |
C |
A |
16: 44,191,115 (GRCm39) |
A323E |
possibly damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,798,975 (GRCm39) |
V2015E |
probably damaging |
Het |
| Sptlc2 |
A |
C |
12: 87,415,857 (GRCm39) |
F57V |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,938,705 (GRCm39) |
N14S |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,312,192 (GRCm39) |
D228E |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,088,390 (GRCm39) |
*1480W |
probably null |
Het |
| Syt14 |
A |
T |
1: 192,613,231 (GRCm39) |
M523K |
probably damaging |
Het |
| Tff3 |
A |
T |
17: 31,348,516 (GRCm39) |
V12E |
probably benign |
Het |
| Tgm2 |
C |
A |
2: 157,969,262 (GRCm39) |
C371F |
probably damaging |
Het |
| Tmem260 |
A |
C |
14: 48,711,501 (GRCm39) |
I197L |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,152,747 (GRCm39) |
D887G |
possibly damaging |
Het |
| Vstm4 |
G |
T |
14: 32,641,247 (GRCm39) |
A277S |
probably benign |
Het |
| Wdtc1 |
A |
T |
4: 133,021,702 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
G |
5: 137,466,600 (GRCm39) |
F419S |
possibly damaging |
Het |
| Zfp317 |
G |
A |
9: 19,558,584 (GRCm39) |
R266Q |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,595 (GRCm39) |
T264S |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,920,350 (GRCm39) |
K605R |
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 |
|
|
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 |
|
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'- CACTATATAATTCCAGGTAGTACCAGG -3'
(R):5'- GCCTCAGTACATTAAGGCTAAAG -3'
Sequencing Primer
(F):5'- AGATTAAATTTAGATTCGGTGGACAG -3'
(R):5'- GGCTAAAGAAAACACTTCTCATCATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation