Incidental Mutation 'IGL02678:Smc1b'
| ID |
303253 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smc1b
|
| Ensembl Gene |
ENSMUSG00000022432 |
| Gene Name |
structural maintenance of chromosomes 1B |
| Synonyms |
Smc1l2, SMC1beta |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.696)
|
| Stock # |
IGL02678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 84949201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1237
(R1237*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000023069]
[ENSMUST00000229203]
|
| AlphaFold |
Q920F6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023068
AA Change: R1237*
|
| SMART Domains |
Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: R1237*
| 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: ENSMUST00000023069
|
| SMART Domains |
Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2_2
|
142 |
286 |
7.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229691
|
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,035,867 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,410,177 (GRCm39) |
E272G |
probably damaging |
Het |
| Alcam |
G |
A |
16: 52,094,401 (GRCm39) |
P416S |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,949,254 (GRCm39) |
H323R |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,163,697 (GRCm39) |
S665N |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,956,898 (GRCm39) |
S3631P |
probably damaging |
Het |
| Capn3 |
A |
C |
2: 120,333,479 (GRCm39) |
N621T |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,839 (GRCm39) |
M43T |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,151 (GRCm39) |
H480Y |
probably damaging |
Het |
| Ccr2 |
T |
A |
9: 123,906,783 (GRCm39) |
D354E |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,292,530 (GRCm39) |
D335A |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,830,646 (GRCm39) |
Y360C |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,552,770 (GRCm39) |
R89L |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,686,831 (GRCm39) |
R91G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,266,106 (GRCm39) |
T88A |
probably benign |
Het |
| Dnai1 |
A |
C |
4: 41,602,917 (GRCm39) |
E140A |
probably benign |
Het |
| Eif1ad17 |
C |
A |
12: 87,978,946 (GRCm39) |
P110Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,814 (GRCm39) |
D2063G |
probably damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,623,584 (GRCm39) |
|
probably benign |
Het |
| Gng7 |
C |
A |
10: 80,787,518 (GRCm39) |
L48F |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,057,246 (GRCm39) |
C2725F |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,583,373 (GRCm39) |
K159R |
probably damaging |
Het |
| Insr |
G |
T |
8: 3,223,570 (GRCm39) |
N854K |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,971,610 (GRCm39) |
|
probably null |
Het |
| Lcat |
A |
G |
8: 106,668,572 (GRCm39) |
|
probably null |
Het |
| Mb21d2 |
T |
C |
16: 28,646,801 (GRCm39) |
E391G |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,942,915 (GRCm39) |
S354P |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,320 (GRCm39) |
|
probably null |
Het |
| Mycl |
G |
A |
4: 122,893,776 (GRCm39) |
R192Q |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,786,836 (GRCm39) |
V78A |
probably benign |
Het |
| Nipbl |
G |
T |
15: 8,380,594 (GRCm39) |
P733T |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,280,198 (GRCm39) |
I450T |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,757 (GRCm39) |
E389V |
probably benign |
Het |
| Or8g30 |
C |
T |
9: 39,230,217 (GRCm39) |
S231N |
probably benign |
Het |
| Oxgr1 |
A |
G |
14: 120,259,580 (GRCm39) |
L209P |
probably damaging |
Het |
| Pak1 |
A |
C |
7: 97,543,209 (GRCm39) |
T291P |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,240,045 (GRCm39) |
I338K |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,195 (GRCm39) |
D364G |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,473,135 (GRCm39) |
P273S |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,418 (GRCm39) |
I38F |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,830,757 (GRCm39) |
T42N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,107 (GRCm39) |
V20A |
probably damaging |
Het |
| Six4 |
T |
C |
12: 73,159,408 (GRCm39) |
Y176C |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,310,081 (GRCm39) |
M9L |
possibly damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,242 (GRCm39) |
L112S |
probably damaging |
Het |
| Slc25a28 |
A |
T |
19: 43,655,586 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
G |
A |
5: 31,245,676 (GRCm39) |
R237* |
probably null |
Het |
| Slco1a8 |
A |
T |
6: 141,954,444 (GRCm39) |
Y10N |
probably damaging |
Het |
| Smtn |
T |
C |
11: 3,476,353 (GRCm39) |
E585G |
possibly damaging |
Het |
| Spatc1 |
A |
T |
15: 76,176,572 (GRCm39) |
D441V |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,426 (GRCm39) |
N2481D |
probably damaging |
Het |
| Tnks2 |
A |
T |
19: 36,823,143 (GRCm39) |
I137F |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,849,649 (GRCm39) |
K1472E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,708,660 (GRCm39) |
E1846* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,221,640 (GRCm39) |
D532G |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,067 (GRCm39) |
H168L |
probably damaging |
Het |
| Zfp977 |
G |
A |
7: 42,232,419 (GRCm39) |
T14I |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation