Incidental Mutation 'R1109:Smc1b'
ID |
98689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
039182-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R1109 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84997016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 535
(T535A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023068
AA Change: T535A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: T535A
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 |
0.2977 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.9%
|
Validation Efficiency |
100% (80/80) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
T |
G |
3: 121,573,245 (GRCm39) |
E262D |
probably damaging |
Het |
Abcg1 |
G |
A |
17: 31,330,210 (GRCm39) |
A504T |
probably benign |
Het |
Acot11 |
T |
C |
4: 106,606,545 (GRCm39) |
T515A |
probably benign |
Het |
Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
Arhgap44 |
T |
A |
11: 64,917,642 (GRCm39) |
H375L |
probably benign |
Het |
Aspm |
A |
T |
1: 139,384,496 (GRCm39) |
I98F |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,305,719 (GRCm39) |
|
probably benign |
Het |
Coa3 |
T |
C |
11: 101,169,611 (GRCm39) |
K48R |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,607,005 (GRCm39) |
S473P |
probably damaging |
Het |
Dnmt1 |
A |
T |
9: 20,833,684 (GRCm39) |
Y451N |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,043,927 (GRCm39) |
Y819H |
possibly damaging |
Het |
Dtx1 |
G |
A |
5: 120,848,484 (GRCm39) |
|
probably benign |
Het |
Dus2 |
T |
A |
8: 106,780,114 (GRCm39) |
F479I |
probably benign |
Het |
Elp1 |
T |
C |
4: 56,786,723 (GRCm39) |
T407A |
probably benign |
Het |
Esrp1 |
T |
C |
4: 11,365,205 (GRCm39) |
E262G |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,418,951 (GRCm39) |
Y466C |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,703,150 (GRCm39) |
F1625S |
possibly damaging |
Het |
Fbxw25 |
A |
T |
9: 109,479,128 (GRCm39) |
H374Q |
probably benign |
Het |
Focad |
T |
C |
4: 88,114,984 (GRCm39) |
|
probably benign |
Het |
Gad2 |
G |
T |
2: 22,571,406 (GRCm39) |
R448L |
probably damaging |
Het |
Gad2 |
G |
A |
2: 22,580,171 (GRCm39) |
|
probably benign |
Het |
Galnt16 |
G |
T |
12: 80,637,405 (GRCm39) |
E377D |
probably benign |
Het |
Gcc1 |
A |
C |
6: 28,419,166 (GRCm39) |
L389R |
probably damaging |
Het |
Ggct |
A |
T |
6: 54,966,554 (GRCm39) |
|
probably benign |
Het |
Gm7052 |
G |
A |
17: 22,259,133 (GRCm39) |
|
probably benign |
Het |
Gps2 |
T |
A |
11: 69,806,507 (GRCm39) |
H177Q |
possibly damaging |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Il36a |
G |
A |
2: 24,106,602 (GRCm39) |
G62E |
probably damaging |
Het |
Il3ra |
C |
T |
14: 14,349,317 (GRCm38) |
R138W |
probably damaging |
Het |
Itprid1 |
G |
T |
6: 55,945,245 (GRCm39) |
K655N |
probably damaging |
Het |
Kdm4b |
T |
A |
17: 56,706,430 (GRCm39) |
I848N |
probably damaging |
Het |
L3hypdh |
A |
G |
12: 72,120,770 (GRCm39) |
V327A |
possibly damaging |
Het |
Lepr |
G |
T |
4: 101,628,552 (GRCm39) |
L552F |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,740,941 (GRCm39) |
I449T |
probably damaging |
Het |
Lrrn1 |
A |
G |
6: 107,544,225 (GRCm39) |
K8E |
probably benign |
Het |
Mex3a |
G |
T |
3: 88,443,967 (GRCm39) |
D348Y |
possibly damaging |
Het |
Mindy2 |
G |
A |
9: 70,538,361 (GRCm39) |
R325* |
probably null |
Het |
Mkrn1 |
A |
T |
6: 39,376,268 (GRCm39) |
M382K |
probably damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,709 (GRCm39) |
|
probably benign |
Het |
Myo15a |
T |
A |
11: 60,383,892 (GRCm39) |
D1646E |
probably damaging |
Het |
Neu2 |
A |
G |
1: 87,524,450 (GRCm39) |
D145G |
probably damaging |
Het |
Obi1 |
A |
T |
14: 104,717,200 (GRCm39) |
L391* |
probably null |
Het |
Or10ah1-ps1 |
A |
T |
5: 143,123,374 (GRCm39) |
N216K |
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or2w3b |
T |
C |
11: 58,623,742 (GRCm39) |
Y83C |
probably benign |
Het |
Plekhm2 |
T |
A |
4: 141,355,295 (GRCm39) |
I938F |
probably benign |
Het |
Pnma8a |
A |
T |
7: 16,695,392 (GRCm39) |
K416* |
probably null |
Het |
Ppid |
T |
C |
3: 79,506,168 (GRCm39) |
S198P |
probably benign |
Het |
Rabl6 |
G |
T |
2: 25,477,538 (GRCm39) |
P304Q |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 157,005,208 (GRCm39) |
|
probably benign |
Het |
Ripor1 |
G |
T |
8: 106,345,560 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,054,124 (GRCm39) |
L658Q |
probably damaging |
Het |
Safb |
T |
A |
17: 56,908,228 (GRCm39) |
|
probably benign |
Het |
Sf3b5 |
T |
C |
10: 12,884,497 (GRCm39) |
M44T |
probably benign |
Het |
Slc26a9 |
A |
T |
1: 131,686,536 (GRCm39) |
M419L |
probably benign |
Het |
Slc38a8 |
T |
C |
8: 120,209,394 (GRCm39) |
D393G |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,705,199 (GRCm39) |
D230G |
probably benign |
Het |
Smg7 |
G |
C |
1: 152,721,334 (GRCm39) |
P626R |
probably damaging |
Het |
Smu1 |
C |
T |
4: 40,755,722 (GRCm39) |
V48M |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,934,667 (GRCm39) |
Y650H |
possibly damaging |
Het |
Spata1 |
C |
T |
3: 146,181,053 (GRCm39) |
V302I |
possibly damaging |
Het |
Sptb |
G |
A |
12: 76,650,377 (GRCm39) |
A1780V |
probably damaging |
Het |
Srrm2 |
G |
A |
17: 24,038,591 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
C |
6: 48,474,377 (GRCm39) |
N4933H |
probably damaging |
Het |
Sult2a2 |
T |
C |
7: 13,468,798 (GRCm39) |
I88T |
probably benign |
Het |
Tgfa |
G |
T |
6: 86,247,072 (GRCm39) |
|
probably benign |
Het |
Thsd1 |
T |
A |
8: 22,733,708 (GRCm39) |
C252S |
possibly damaging |
Het |
Tmem102 |
T |
A |
11: 69,695,630 (GRCm39) |
H114L |
probably damaging |
Het |
Tnni3k |
T |
A |
3: 154,498,414 (GRCm39) |
K808N |
possibly damaging |
Het |
Trpm7 |
G |
T |
2: 126,639,713 (GRCm39) |
L1628M |
probably benign |
Het |
Ttn |
A |
G |
2: 76,561,081 (GRCm39) |
Y29107H |
probably damaging |
Het |
Upb1 |
T |
C |
10: 75,273,999 (GRCm39) |
L342P |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,832,829 (GRCm39) |
T117A |
probably benign |
Het |
Vmn2r16 |
A |
G |
5: 109,487,652 (GRCm39) |
D175G |
probably damaging |
Het |
Vps35l |
A |
T |
7: 118,374,552 (GRCm39) |
I351F |
probably damaging |
Het |
Zfhx4 |
T |
G |
3: 5,464,930 (GRCm39) |
M1696R |
possibly damaging |
Het |
Zfp746 |
A |
G |
6: 48,041,856 (GRCm39) |
V289A |
possibly damaging |
Het |
Zfyve26 |
A |
C |
12: 79,318,901 (GRCm39) |
F1146V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCCATAGCTGCCAGTTTGGAG -3'
(R):5'- TCACCTATTGCTTAAAGACGGCACTTG -3'
Sequencing Primer
(F):5'- CTGCCAGTTTGGAGCAATAAAG -3'
(R):5'- TCACTCTATGGGAAAGCAGTC -3'
|
Posted On |
2014-01-05 |