Incidental Mutation 'R7124:Smc1b'
ID |
552234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
045212-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R7124 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 84955798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1034
(Q1034K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000227591]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023068
AA Change: Q1034K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: Q1034K
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: ENSMUST00000227591
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
97% (72/74) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
C |
3: 124,208,042 (GRCm39) |
S212R |
probably benign |
Het |
4930562C15Rik |
T |
C |
16: 4,682,196 (GRCm39) |
S170P |
probably benign |
Het |
9330182O14Rik |
G |
A |
15: 40,008,303 (GRCm39) |
C59Y |
unknown |
Het |
AA986860 |
A |
G |
1: 130,670,624 (GRCm39) |
E282G |
possibly damaging |
Het |
Adam1a |
G |
T |
5: 121,657,397 (GRCm39) |
T632K |
probably benign |
Het |
Aspg |
G |
T |
12: 112,089,417 (GRCm39) |
A402S |
probably damaging |
Het |
Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
Card9 |
C |
T |
2: 26,246,896 (GRCm39) |
|
probably null |
Het |
Cdh13 |
T |
C |
8: 119,694,912 (GRCm39) |
V254A |
probably damaging |
Het |
Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
Copb2 |
T |
C |
9: 98,459,106 (GRCm39) |
S283P |
probably damaging |
Het |
Csmd1 |
G |
T |
8: 15,953,202 (GRCm39) |
S3426R |
probably damaging |
Het |
Cyp4f14 |
A |
G |
17: 33,133,562 (GRCm39) |
V98A |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,167,883 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
C |
11: 104,629,100 (GRCm39) |
F926S |
probably benign |
Het |
Eif4ebp1 |
T |
C |
8: 27,763,447 (GRCm39) |
V80A |
probably damaging |
Het |
Eloa |
T |
A |
4: 135,736,452 (GRCm39) |
I565F |
probably damaging |
Het |
Espn |
G |
T |
4: 152,215,721 (GRCm39) |
H513N |
probably benign |
Het |
Fam83c |
C |
T |
2: 155,671,491 (GRCm39) |
S648N |
probably benign |
Het |
Fdxr |
C |
T |
11: 115,160,403 (GRCm39) |
V351M |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,862,260 (GRCm39) |
D2213V |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,267,825 (GRCm39) |
I474F |
possibly damaging |
Het |
Golgb1 |
T |
C |
16: 36,734,035 (GRCm39) |
V1135A |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Hipk2 |
A |
T |
6: 38,795,413 (GRCm39) |
Y285* |
probably null |
Het |
Ifi27l2b |
T |
C |
12: 103,417,579 (GRCm39) |
I203V |
probably damaging |
Het |
Itga10 |
T |
A |
3: 96,559,081 (GRCm39) |
M390K |
probably damaging |
Het |
Itgb8 |
G |
T |
12: 119,166,159 (GRCm39) |
S124* |
probably null |
Het |
Klhdc10 |
T |
A |
6: 30,441,826 (GRCm39) |
F173I |
probably damaging |
Het |
Kng2 |
T |
G |
16: 22,830,805 (GRCm39) |
N168T |
probably damaging |
Het |
Krtap24-1 |
T |
C |
16: 88,408,434 (GRCm39) |
T231A |
probably damaging |
Het |
Lbx2 |
A |
T |
6: 83,065,045 (GRCm39) |
D194V |
probably damaging |
Het |
Lrrc39 |
C |
A |
3: 116,359,562 (GRCm39) |
Q36K |
probably benign |
Het |
Madd |
T |
C |
2: 90,992,393 (GRCm39) |
E1093G |
possibly damaging |
Het |
Mfap3l |
A |
G |
8: 61,124,303 (GRCm39) |
T182A |
probably damaging |
Het |
Myo9b |
T |
A |
8: 71,786,345 (GRCm39) |
Y670* |
probably null |
Het |
Nbea |
A |
G |
3: 55,899,865 (GRCm39) |
L1428P |
probably damaging |
Het |
Nkx2-3 |
T |
C |
19: 43,603,245 (GRCm39) |
Y284H |
possibly damaging |
Het |
Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
Npy2r |
G |
A |
3: 82,448,490 (GRCm39) |
A95V |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,846,251 (GRCm39) |
E70G |
probably damaging |
Het |
Or5ap2 |
T |
C |
2: 85,680,254 (GRCm39) |
S153P |
probably benign |
Het |
Or5m11 |
T |
A |
2: 85,781,817 (GRCm39) |
S137T |
possibly damaging |
Het |
Palld |
A |
T |
8: 61,969,679 (GRCm39) |
V1215D |
unknown |
Het |
Pard6g |
T |
C |
18: 80,160,340 (GRCm39) |
I151T |
possibly damaging |
Het |
Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,840,256 (GRCm39) |
I554V |
probably benign |
Het |
Pcnx2 |
G |
A |
8: 126,480,356 (GRCm39) |
P1984S |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,648,196 (GRCm39) |
M128V |
probably benign |
Het |
Polr2a |
C |
A |
11: 69,628,288 (GRCm39) |
E1302* |
probably null |
Het |
Psg17 |
C |
A |
7: 18,548,421 (GRCm39) |
G450V |
probably damaging |
Het |
Psg17 |
C |
G |
7: 18,548,422 (GRCm39) |
G450R |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,474,128 (GRCm39) |
E338G |
probably damaging |
Het |
Rev3l |
A |
T |
10: 39,698,163 (GRCm39) |
K887* |
probably null |
Het |
Rragd |
T |
C |
4: 32,996,027 (GRCm39) |
F124S |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,513,712 (GRCm39) |
|
probably null |
Het |
Sfpq |
A |
T |
4: 126,919,725 (GRCm39) |
D490V |
possibly damaging |
Het |
Smg7 |
T |
C |
1: 152,753,831 (GRCm39) |
N5S |
probably benign |
Het |
Spata31d1a |
A |
C |
13: 59,850,301 (GRCm39) |
L609R |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,345,164 (GRCm39) |
K1050E |
probably benign |
Het |
Stab1 |
G |
A |
14: 30,882,824 (GRCm39) |
T393I |
possibly damaging |
Het |
Sult2a4 |
C |
T |
7: 13,722,320 (GRCm39) |
W49* |
probably null |
Het |
Thrap3 |
A |
T |
4: 126,074,231 (GRCm39) |
S172T |
unknown |
Het |
Tmem130 |
A |
G |
5: 144,687,721 (GRCm39) |
V205A |
probably damaging |
Het |
Ube2d2b |
A |
G |
5: 107,978,717 (GRCm39) |
I123V |
probably benign |
Het |
Unc79 |
G |
T |
12: 103,027,652 (GRCm39) |
L414F |
probably damaging |
Het |
Vmn2r30 |
C |
T |
7: 7,337,183 (GRCm39) |
S151N |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,356,078 (GRCm39) |
T443S |
probably benign |
Het |
Zfp229 |
T |
A |
17: 21,961,597 (GRCm39) |
S51T |
probably damaging |
Het |
Zfp617 |
T |
C |
8: 72,686,384 (GRCm39) |
L238P |
probably damaging |
Het |
Zfp707 |
T |
A |
15: 75,845,398 (GRCm39) |
C87* |
probably null |
Het |
Zfp853 |
T |
C |
5: 143,275,362 (GRCm39) |
K101R |
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 |
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'- TTTGTGCTTCAGTAGTAAAAGGCAC -3'
(R):5'- TCCCGGGGCTATCGAAGAATAG -3'
Sequencing Primer
(F):5'- GTAAAAGGCACACATTACCATATGG -3'
(R):5'- CACACATGCTATGGGAGATATGCTC -3'
|
Posted On |
2019-05-15 |