Incidental Mutation 'R2086:Smc1b'
ID |
230030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
040091-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R2086 (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: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
99% (80/81) |
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 |
4930533L02Rik |
T |
C |
7: 124,917,767 (GRCm39) |
M53T |
unknown |
Het |
Abcb11 |
T |
A |
2: 69,089,820 (GRCm39) |
|
probably benign |
Het |
Acap2 |
C |
G |
16: 30,929,763 (GRCm39) |
A432P |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,146,249 (GRCm39) |
R302G |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,536 (GRCm39) |
E558G |
probably damaging |
Het |
Ap2b1 |
T |
G |
11: 83,241,944 (GRCm39) |
S608A |
possibly damaging |
Het |
Atp13a3 |
T |
A |
16: 30,171,116 (GRCm39) |
T310S |
possibly damaging |
Het |
Atp6v1b1 |
T |
C |
6: 83,734,834 (GRCm39) |
V382A |
probably benign |
Het |
Atp6v1g1 |
T |
A |
4: 63,468,304 (GRCm39) |
F102L |
probably benign |
Het |
B430306N03Rik |
T |
A |
17: 48,623,810 (GRCm39) |
V37D |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,769,314 (GRCm39) |
Y1872C |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,148,570 (GRCm39) |
Y54N |
probably damaging |
Het |
Cct5 |
T |
C |
15: 31,594,349 (GRCm39) |
E256G |
probably damaging |
Het |
Cd5 |
A |
G |
19: 10,700,620 (GRCm39) |
S295P |
probably benign |
Het |
Cenpb |
T |
C |
2: 131,020,517 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,942,076 (GRCm39) |
M218T |
possibly damaging |
Het |
Colec11 |
C |
T |
12: 28,644,786 (GRCm39) |
R236H |
probably damaging |
Het |
Crem |
T |
A |
18: 3,288,098 (GRCm39) |
|
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,096,201 (GRCm39) |
N58S |
probably benign |
Het |
Cyp2a4 |
T |
G |
7: 26,011,733 (GRCm39) |
M318R |
probably damaging |
Het |
Dhrs1 |
T |
A |
14: 55,981,116 (GRCm39) |
Q98L |
probably null |
Het |
Dnah11 |
G |
T |
12: 118,077,606 (GRCm39) |
Q1296K |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
Eid2b |
C |
T |
7: 27,977,198 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
A |
T |
5: 76,680,693 (GRCm39) |
K28* |
probably null |
Het |
Fam114a1 |
A |
G |
5: 65,137,402 (GRCm39) |
D115G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,592,760 (GRCm39) |
|
probably null |
Het |
Gc |
T |
C |
5: 89,586,201 (GRCm39) |
Y313C |
probably damaging |
Het |
Gdpd1 |
A |
G |
11: 86,926,094 (GRCm39) |
Y284H |
probably benign |
Het |
Gm21957 |
T |
A |
7: 124,818,878 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
G |
A |
13: 59,792,999 (GRCm39) |
Q169* |
probably null |
Het |
Greb1l |
T |
C |
18: 10,523,281 (GRCm39) |
V813A |
probably damaging |
Het |
Itih1 |
C |
T |
14: 30,659,800 (GRCm39) |
A279T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
T |
C |
17: 68,124,618 (GRCm39) |
C2893R |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,657,887 (GRCm39) |
N334K |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,472,642 (GRCm39) |
D1053G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,228,729 (GRCm39) |
K316R |
probably benign |
Het |
Mapre3 |
A |
C |
5: 31,020,546 (GRCm39) |
|
probably null |
Het |
Mgam |
T |
A |
6: 40,737,962 (GRCm39) |
|
probably null |
Het |
Mical2 |
A |
C |
7: 111,917,810 (GRCm39) |
H389P |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,711,248 (GRCm39) |
D347G |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Nodal |
A |
T |
10: 61,259,077 (GRCm39) |
E171D |
possibly damaging |
Het |
Notch2 |
T |
C |
3: 98,009,683 (GRCm39) |
S537P |
probably damaging |
Het |
Obox6 |
A |
G |
7: 15,567,532 (GRCm39) |
L305S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,082 (GRCm39) |
D2715G |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or5g26 |
A |
C |
2: 85,494,090 (GRCm39) |
S229R |
probably benign |
Het |
Pcca |
T |
C |
14: 122,923,527 (GRCm39) |
S404P |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,906 (GRCm39) |
S407P |
probably damaging |
Het |
Plekha5 |
C |
A |
6: 140,516,044 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
G |
13: 67,101,619 (GRCm39) |
N72S |
probably benign |
Het |
Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
Pygm |
G |
A |
19: 6,441,511 (GRCm39) |
|
probably null |
Het |
Rab7 |
C |
T |
6: 87,989,300 (GRCm39) |
V57I |
probably benign |
Het |
Rasl10a |
A |
G |
11: 5,009,431 (GRCm39) |
|
probably null |
Het |
Rergl |
T |
C |
6: 139,471,832 (GRCm39) |
T106A |
probably benign |
Het |
Rnf17 |
T |
G |
14: 56,720,837 (GRCm39) |
V1023G |
probably damaging |
Het |
Rnf25 |
T |
A |
1: 74,633,126 (GRCm39) |
R409W |
probably damaging |
Het |
Rps6ka1 |
T |
C |
4: 133,600,280 (GRCm39) |
M1V |
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,585,874 (GRCm39) |
T140A |
possibly damaging |
Het |
Sbno2 |
T |
A |
10: 79,893,690 (GRCm39) |
I1204F |
possibly damaging |
Het |
Serpina16 |
A |
T |
12: 103,641,521 (GRCm39) |
I68N |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,628 (GRCm39) |
S202P |
probably damaging |
Het |
Slc35g3 |
G |
C |
11: 69,651,772 (GRCm39) |
S93W |
probably damaging |
Het |
Slc49a3 |
C |
T |
5: 108,593,487 (GRCm39) |
R117H |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,227,287 (GRCm39) |
L648P |
probably damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,102 (GRCm39) |
D198G |
probably benign |
Het |
Tedc2 |
T |
C |
17: 24,436,874 (GRCm39) |
E287G |
probably damaging |
Het |
Tjp1 |
C |
A |
7: 64,962,669 (GRCm39) |
R1089S |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,722,928 (GRCm39) |
D125E |
probably benign |
Het |
Uggt1 |
C |
T |
1: 36,231,495 (GRCm39) |
R490Q |
probably null |
Het |
Uroc1 |
T |
G |
6: 90,321,096 (GRCm39) |
L224R |
probably damaging |
Het |
Vmn1r228 |
A |
T |
17: 20,997,455 (GRCm39) |
I21N |
possibly damaging |
Het |
Vmn2r102 |
T |
G |
17: 19,896,949 (GRCm39) |
L99V |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,857,571 (GRCm39) |
S2601F |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,830 (GRCm39) |
L932P |
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 |
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'- CAGCCAGTTCTGCCACTAAG -3'
(R):5'- TGCCTAACAATCTCTGCAAGC -3'
Sequencing Primer
(F):5'- TAAGGCTCGTATGCCATC -3'
(R):5'- CAAAATTGCTTTCATTTTGGCCAGGG -3'
|
Posted On |
2014-09-18 |