Incidental Mutation 'R8835:Smc1b'
| ID |
674114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc1b
|
| Ensembl Gene |
ENSMUSG00000022432 |
| Gene Name |
structural maintenance of chromosomes 1B |
| Synonyms |
Smc1l2, SMC1beta |
| MMRRC Submission |
068663-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R8835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85013949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 74
(V74D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023067]
[ENSMUST00000023068]
[ENSMUST00000229238]
|
| AlphaFold |
Q920F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023067
|
| SMART Domains |
Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIB43A
|
3 |
377 |
9.7e-147 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023068
AA Change: V74D
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: V74D
| 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: ENSMUST00000229238
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
C |
3: 121,896,433 (GRCm39) |
G555A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,718,914 (GRCm39) |
K15E |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,429,379 (GRCm39) |
I2V |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,972,144 (GRCm39) |
C26* |
probably null |
Het |
| Arhgef38 |
A |
T |
3: 132,837,832 (GRCm39) |
D699E |
unknown |
Het |
| Atxn2 |
T |
C |
5: 121,940,248 (GRCm39) |
S1008P |
possibly damaging |
Het |
| C1rb |
A |
G |
6: 124,552,217 (GRCm39) |
K312E |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,484,264 (GRCm39) |
R424Q |
probably damaging |
Het |
| Ccdc27 |
G |
A |
4: 154,127,023 (GRCm39) |
T13I |
unknown |
Het |
| Cdc42bpa |
G |
T |
1: 179,896,916 (GRCm39) |
V400F |
probably damaging |
Het |
| Cemip |
C |
A |
7: 83,586,651 (GRCm39) |
G1301V |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,584,429 (GRCm39) |
L650P |
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,386,597 (GRCm39) |
D222V |
|
Het |
| Cog8 |
A |
T |
8: 107,773,920 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,447,313 (GRCm39) |
L1279P |
unknown |
Het |
| Cyyr1 |
A |
T |
16: 85,254,553 (GRCm39) |
Y116* |
probably null |
Het |
| Dlgap4 |
A |
T |
2: 156,587,946 (GRCm39) |
S597C |
probably damaging |
Het |
| Dpysl5 |
T |
A |
5: 30,936,282 (GRCm39) |
|
probably null |
Het |
| Dtl |
G |
T |
1: 191,293,609 (GRCm39) |
H189Q |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,723 (GRCm39) |
N275K |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,321,874 (GRCm39) |
C110R |
|
Het |
| Fhod1 |
A |
G |
8: 106,065,484 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
C |
17: 7,958,111 (GRCm39) |
F1712C |
probably damaging |
Het |
| Gcnt7 |
G |
A |
2: 172,295,957 (GRCm39) |
T289M |
probably damaging |
Het |
| Gm11020 |
A |
T |
8: 105,048,293 (GRCm39) |
E32V |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,627 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
G |
A |
9: 85,619,563 (GRCm39) |
L126F |
possibly damaging |
Het |
| Il17rb |
T |
G |
14: 29,722,308 (GRCm39) |
E241A |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,941,802 (GRCm39) |
R631Q |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,750,118 (GRCm39) |
S991T |
possibly damaging |
Het |
| Mctp2 |
T |
G |
7: 71,852,161 (GRCm39) |
E455A |
probably benign |
Het |
| Mgat4a |
A |
T |
1: 37,491,372 (GRCm39) |
I421N |
possibly damaging |
Het |
| Myof |
C |
A |
19: 37,955,547 (GRCm39) |
V526L |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,248,551 (GRCm39) |
G2297D |
possibly damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,307 (GRCm39) |
|
probably benign |
Het |
| Nkx6-1 |
G |
T |
5: 101,811,971 (GRCm39) |
P44T |
unknown |
Het |
| Nploc4 |
T |
C |
11: 120,309,122 (GRCm39) |
K160R |
possibly damaging |
Het |
| Olfm3 |
C |
A |
3: 114,916,061 (GRCm39) |
A331D |
probably damaging |
Het |
| Or10g6 |
A |
C |
9: 39,934,171 (GRCm39) |
S161R |
possibly damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,528,264 (GRCm39) |
N1898S |
probably benign |
Het |
| Pde1a |
G |
A |
2: 79,708,522 (GRCm39) |
L299F |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,454,775 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Prom1 |
T |
G |
5: 44,175,722 (GRCm39) |
Y533S |
probably damaging |
Het |
| Prrt4 |
C |
A |
6: 29,169,986 (GRCm39) |
C822F |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,285,201 (GRCm39) |
D542A |
possibly damaging |
Het |
| Ptrh2 |
T |
C |
11: 86,580,412 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pum1 |
C |
T |
4: 130,471,064 (GRCm39) |
T439M |
probably damaging |
Het |
| Rarb |
A |
T |
14: 16,575,011 (GRCm38) |
F2I |
probably benign |
Het |
| Rpp21 |
G |
A |
17: 36,566,678 (GRCm39) |
S127L |
probably benign |
Het |
| Scgb1b19 |
T |
G |
7: 32,986,948 (GRCm39) |
V33G |
probably damaging |
Het |
| Spint3 |
T |
A |
2: 164,411,923 (GRCm39) |
K29* |
probably null |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,228,258 (GRCm39) |
W1648R |
probably benign |
Het |
| Tbc1d21 |
C |
G |
9: 58,273,991 (GRCm39) |
V62L |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,270 (GRCm39) |
N130S |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,304,975 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tpd52l1 |
G |
T |
10: 31,255,314 (GRCm39) |
T11K |
probably benign |
Het |
| Ttll10 |
G |
T |
4: 156,133,055 (GRCm39) |
P10T |
probably benign |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,409 (GRCm39) |
I150V |
possibly damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,127,411 (GRCm39) |
Y263N |
probably damaging |
Het |
| Zfp354a |
C |
T |
11: 50,960,628 (GRCm39) |
R279* |
probably null |
Het |
| Zfp715 |
A |
G |
7: 42,948,430 (GRCm39) |
I510T |
|
Het |
| Zfp735 |
A |
T |
11: 73,601,692 (GRCm39) |
H212L |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,772 (GRCm39) |
T944A |
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 |
|
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 |
|
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'- ATACCAGTGATTAGTAAGTCCCAG -3'
(R):5'- CAGACAAGATTTCTGAGACTTGC -3'
Sequencing Primer
(F):5'- GTCCCAGACTTCAAAGAGTGAGC -3'
(R):5'- CAAGATTTCTGAGACTTGCATATTGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation