Incidental Mutation 'R0440:Smc1b'
ID |
46718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
038641-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R0440 (G1)
|
Quality Score |
178 |
Status
|
Validated
(trace)
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 84996874 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 |
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
99% (68/69) |
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 |
A4galt |
G |
A |
15: 83,112,694 (GRCm39) |
R30W |
probably damaging |
Het |
Adam7 |
T |
C |
14: 68,748,305 (GRCm39) |
|
probably null |
Het |
Agl |
A |
T |
3: 116,552,455 (GRCm39) |
L1158Q |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,114,569 (GRCm39) |
S66P |
probably damaging |
Het |
Akr1c20 |
T |
A |
13: 4,537,207 (GRCm39) |
D316V |
probably benign |
Het |
App |
C |
A |
16: 84,853,302 (GRCm39) |
E259* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,784,529 (GRCm39) |
|
probably null |
Het |
Armc9 |
G |
A |
1: 86,121,984 (GRCm39) |
|
probably null |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,964,053 (GRCm39) |
P875S |
probably damaging |
Het |
Cc2d1b |
T |
A |
4: 108,483,013 (GRCm39) |
|
probably null |
Het |
Ccar1 |
C |
T |
10: 62,616,236 (GRCm39) |
V165I |
possibly damaging |
Het |
Ccdc106 |
A |
T |
7: 5,063,244 (GRCm39) |
I250F |
probably damaging |
Het |
Ccny |
T |
C |
18: 9,332,917 (GRCm39) |
I205V |
probably benign |
Het |
Cfap52 |
T |
A |
11: 67,844,914 (GRCm39) |
I52L |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,442,283 (GRCm39) |
T2096S |
possibly damaging |
Het |
Clstn3 |
G |
A |
6: 124,428,372 (GRCm39) |
T423I |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,703,262 (GRCm39) |
D440G |
possibly damaging |
Het |
Dclk3 |
G |
A |
9: 111,298,231 (GRCm39) |
V592M |
probably damaging |
Het |
Ddx31 |
A |
T |
2: 28,747,144 (GRCm39) |
I208F |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,556,419 (GRCm39) |
|
probably null |
Het |
Eml4 |
T |
C |
17: 83,753,487 (GRCm39) |
|
probably null |
Het |
Enpp2 |
T |
A |
15: 54,710,633 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,244,315 (GRCm39) |
S38G |
possibly damaging |
Het |
Gcnt1 |
G |
A |
19: 17,307,680 (GRCm39) |
T15I |
probably benign |
Het |
Gm21834 |
T |
C |
17: 58,049,121 (GRCm39) |
T32A |
possibly damaging |
Het |
Golga2 |
A |
G |
2: 32,192,945 (GRCm39) |
D394G |
probably damaging |
Het |
Gtf3c4 |
G |
T |
2: 28,730,181 (GRCm39) |
|
probably null |
Het |
Igkv4-69 |
A |
G |
6: 69,261,253 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,451,150 (GRCm39) |
R500G |
possibly damaging |
Het |
Kif5b |
A |
T |
18: 6,226,980 (GRCm39) |
|
probably benign |
Het |
Klhl36 |
A |
G |
8: 120,603,290 (GRCm39) |
E515G |
probably damaging |
Het |
Lifr |
C |
T |
15: 7,186,672 (GRCm39) |
R59* |
probably null |
Het |
Lrif1 |
A |
T |
3: 106,641,714 (GRCm39) |
Q10L |
possibly damaging |
Het |
Lrp8 |
A |
G |
4: 107,726,295 (GRCm39) |
E908G |
probably damaging |
Het |
Lrrc23 |
A |
T |
6: 124,747,667 (GRCm39) |
D307E |
probably benign |
Het |
Mpv17l |
T |
C |
16: 13,762,583 (GRCm39) |
F27L |
probably damaging |
Het |
Mta3 |
C |
T |
17: 84,074,016 (GRCm39) |
A76V |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,345,771 (GRCm39) |
Y202* |
probably null |
Het |
Naprt |
A |
G |
15: 75,762,918 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
A |
4: 43,650,315 (GRCm39) |
V960D |
probably damaging |
Het |
Oca2 |
A |
T |
7: 56,073,100 (GRCm39) |
Y765F |
probably benign |
Het |
Or2d2 |
A |
T |
7: 106,727,939 (GRCm39) |
H220Q |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,712 (GRCm39) |
Y215* |
probably null |
Het |
Prdm16 |
G |
A |
4: 154,561,084 (GRCm39) |
|
probably benign |
Het |
Ptn |
A |
G |
6: 36,721,432 (GRCm39) |
S3P |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,623,331 (GRCm39) |
|
probably benign |
Het |
Rad21 |
A |
T |
15: 51,831,754 (GRCm39) |
D442E |
probably benign |
Het |
Rmdn2 |
A |
G |
17: 79,975,384 (GRCm39) |
H291R |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
Samd4b |
A |
T |
7: 28,107,585 (GRCm39) |
I228N |
probably benign |
Het |
Sdr9c7 |
G |
T |
10: 127,734,822 (GRCm39) |
|
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,294,001 (GRCm39) |
N254D |
probably benign |
Het |
Slc16a8 |
T |
A |
15: 79,136,807 (GRCm39) |
I132F |
probably damaging |
Het |
Slc18b1 |
T |
A |
10: 23,694,976 (GRCm39) |
Y274N |
probably benign |
Het |
Slc45a2 |
A |
T |
15: 11,000,903 (GRCm39) |
M1L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,785,792 (GRCm39) |
S617G |
probably benign |
Het |
Stk10 |
A |
G |
11: 32,554,190 (GRCm39) |
M626V |
probably damaging |
Het |
Synpo2l |
T |
G |
14: 20,711,466 (GRCm39) |
I385L |
possibly damaging |
Het |
Tmprss11d |
T |
C |
5: 86,486,671 (GRCm39) |
Y73C |
probably damaging |
Het |
Ttc21b |
A |
G |
2: 66,066,726 (GRCm39) |
V309A |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,268 (GRCm39) |
I1235T |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,567,310 (GRCm39) |
I110V |
probably benign |
Het |
Vps13c |
G |
A |
9: 67,880,143 (GRCm39) |
G3442S |
probably damaging |
Het |
Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
Zfp207 |
T |
A |
11: 80,286,333 (GRCm39) |
|
probably benign |
Het |
Zfp748 |
A |
C |
13: 67,701,144 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACCTGAAGTTCAGAAACACCAGC -3'
(R):5'- GCTTAAAGACGGCACTTGATTCACTCTA -3'
Sequencing Primer
(F):5'- CCAGCCACTTAAATGACTGATTG -3'
(R):5'- TCACTCTATGGGAAAGCAGTC -3'
|
Posted On |
2013-06-11 |