Incidental Mutation 'R5817:Gmcl1'
ID |
449093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmcl1
|
Ensembl Gene |
ENSMUSG00000001157 |
Gene Name |
germ cell-less, spermatogenesis associated 1 |
Synonyms |
mglc-1, Gcl, 2810049L19Rik, Btbd13 |
MMRRC Submission |
043397-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.426)
|
Stock # |
R5817 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86668750-86710365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86691230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 255
(M255T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001185]
|
AlphaFold |
Q920G9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001185
AA Change: M255T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000001185 Gene: ENSMUSG00000001157 AA Change: M255T
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
BTB
|
106 |
206 |
3.76e-11 |
SMART |
BACK
|
211 |
298 |
3.6e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203741
|
Meta Mutation Damage Score |
0.8286 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (71/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired nuclear membrane integrity in liver, endocrine pancreas, and testis. Mutant males show reduced fertility with decreased chromatin condensation and morphologically abnormal sperm. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
G |
4: 144,349,497 (GRCm39) |
I251M |
probably benign |
Het |
Abcf3 |
T |
C |
16: 20,367,833 (GRCm39) |
V63A |
possibly damaging |
Het |
Agpat4 |
C |
T |
17: 12,434,097 (GRCm39) |
|
probably benign |
Het |
Ahcyl2 |
G |
A |
6: 29,890,720 (GRCm39) |
V292M |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,740,437 (GRCm39) |
F406I |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgef5 |
G |
A |
6: 43,252,038 (GRCm39) |
D930N |
probably benign |
Het |
Cc2d2a |
G |
A |
5: 43,869,760 (GRCm39) |
R887Q |
probably damaging |
Het |
Ceacam18 |
A |
G |
7: 43,291,265 (GRCm39) |
T236A |
probably benign |
Het |
Chst15 |
A |
T |
7: 131,870,873 (GRCm39) |
Y221N |
probably damaging |
Het |
Chst15 |
G |
A |
7: 131,870,876 (GRCm39) |
L220F |
probably damaging |
Het |
Cntn2 |
G |
A |
1: 132,446,486 (GRCm39) |
T784I |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,038,413 (GRCm39) |
L1011P |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 6,996,905 (GRCm39) |
D3894V |
probably damaging |
Het |
Eif1ad19 |
G |
T |
12: 87,740,201 (GRCm39) |
D119E |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,590,850 (GRCm39) |
M443V |
possibly damaging |
Het |
Fam20a |
T |
A |
11: 109,564,244 (GRCm39) |
Q503L |
possibly damaging |
Het |
Ftdc2 |
T |
C |
16: 58,457,156 (GRCm39) |
I89V |
probably benign |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm5454 |
T |
A |
13: 103,493,140 (GRCm39) |
|
noncoding transcript |
Het |
Gm5581 |
A |
G |
6: 131,144,132 (GRCm39) |
|
noncoding transcript |
Het |
Gm6619 |
A |
G |
6: 131,463,400 (GRCm39) |
I6V |
unknown |
Het |
Golm2 |
T |
A |
2: 121,736,525 (GRCm39) |
S231T |
probably benign |
Het |
Gprc5c |
T |
A |
11: 114,754,450 (GRCm39) |
C42* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,613,275 (GRCm39) |
E1384V |
possibly damaging |
Het |
Il6 |
A |
G |
5: 30,223,006 (GRCm39) |
I91V |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,760,244 (GRCm39) |
S1005T |
unknown |
Het |
Map1a |
A |
T |
2: 121,129,391 (GRCm39) |
H143L |
possibly damaging |
Het |
Mical2 |
A |
T |
7: 111,922,866 (GRCm39) |
T624S |
probably benign |
Het |
Msh3 |
A |
T |
13: 92,422,508 (GRCm39) |
N549K |
possibly damaging |
Het |
Ncr1 |
T |
A |
7: 4,343,894 (GRCm39) |
I164N |
possibly damaging |
Het |
Or10ak11 |
T |
G |
4: 118,687,296 (GRCm39) |
T115P |
probably damaging |
Het |
Or51a5 |
A |
T |
7: 102,771,115 (GRCm39) |
M292K |
possibly damaging |
Het |
Or52m1 |
A |
G |
7: 102,289,585 (GRCm39) |
N44S |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,673 (GRCm39) |
D67G |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,712,272 (GRCm39) |
I541M |
probably benign |
Het |
Pcsk7 |
A |
T |
9: 45,837,331 (GRCm39) |
M552L |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,879,154 (GRCm39) |
E626G |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,460,838 (GRCm39) |
D1176N |
probably damaging |
Het |
Polr2f |
T |
C |
15: 79,035,869 (GRCm39) |
I110T |
probably damaging |
Het |
Pomt1 |
A |
T |
2: 32,138,691 (GRCm39) |
I436F |
probably damaging |
Het |
Prag1 |
A |
C |
8: 36,570,857 (GRCm39) |
Q480P |
probably damaging |
Het |
Qars1 |
C |
T |
9: 108,387,441 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,175,406 (GRCm39) |
S1797L |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,366,039 (GRCm39) |
T832A |
probably damaging |
Het |
Rnf169 |
A |
G |
7: 99,574,976 (GRCm39) |
S540P |
probably benign |
Het |
Serpini1 |
T |
A |
3: 75,520,631 (GRCm39) |
M76K |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,550,681 (GRCm39) |
L419S |
probably damaging |
Het |
Slc25a17 |
G |
A |
15: 81,211,261 (GRCm39) |
T225M |
probably damaging |
Het |
Slc6a5 |
C |
A |
7: 49,606,239 (GRCm39) |
L716I |
probably benign |
Het |
Smc1b |
A |
G |
15: 84,951,984 (GRCm39) |
V1149A |
probably damaging |
Het |
Trappc1 |
A |
T |
11: 69,215,060 (GRCm39) |
Q26L |
possibly damaging |
Het |
Trpm2 |
C |
A |
10: 77,801,814 (GRCm39) |
G84W |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,573,010 (GRCm39) |
T24215M |
probably damaging |
Het |
Ubn2 |
C |
A |
6: 38,456,088 (GRCm39) |
T337K |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,196,158 (GRCm39) |
K1265E |
probably damaging |
Het |
Vmn1r214 |
T |
G |
13: 23,219,491 (GRCm39) |
I328M |
probably damaging |
Het |
Xcr1 |
C |
T |
9: 123,684,922 (GRCm39) |
C280Y |
possibly damaging |
Het |
Zc3h13 |
A |
G |
14: 75,565,572 (GRCm39) |
E895G |
probably damaging |
Het |
|
Other mutations in Gmcl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02015:Gmcl1
|
APN |
6 |
86,684,439 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL03354:Gmcl1
|
APN |
6 |
86,703,140 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Gmcl1
|
UTSW |
6 |
86,681,520 (GRCm39) |
missense |
probably benign |
0.09 |
R0149:Gmcl1
|
UTSW |
6 |
86,709,891 (GRCm39) |
critical splice donor site |
probably null |
|
R1398:Gmcl1
|
UTSW |
6 |
86,691,244 (GRCm39) |
splice site |
probably benign |
|
R1869:Gmcl1
|
UTSW |
6 |
86,674,498 (GRCm39) |
missense |
probably benign |
0.20 |
R1871:Gmcl1
|
UTSW |
6 |
86,674,498 (GRCm39) |
missense |
probably benign |
0.20 |
R2851:Gmcl1
|
UTSW |
6 |
86,703,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R4584:Gmcl1
|
UTSW |
6 |
86,699,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Gmcl1
|
UTSW |
6 |
86,699,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Gmcl1
|
UTSW |
6 |
86,709,980 (GRCm39) |
missense |
probably benign |
0.30 |
R4851:Gmcl1
|
UTSW |
6 |
86,681,538 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4957:Gmcl1
|
UTSW |
6 |
86,687,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Gmcl1
|
UTSW |
6 |
86,703,127 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5482:Gmcl1
|
UTSW |
6 |
86,695,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Gmcl1
|
UTSW |
6 |
86,674,507 (GRCm39) |
missense |
probably damaging |
0.97 |
R5854:Gmcl1
|
UTSW |
6 |
86,691,241 (GRCm39) |
splice site |
silent |
|
R5891:Gmcl1
|
UTSW |
6 |
86,684,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R5895:Gmcl1
|
UTSW |
6 |
86,688,596 (GRCm39) |
missense |
probably benign |
0.03 |
R6012:Gmcl1
|
UTSW |
6 |
86,698,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Gmcl1
|
UTSW |
6 |
86,677,623 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7693:Gmcl1
|
UTSW |
6 |
86,691,239 (GRCm39) |
missense |
probably benign |
0.10 |
R7698:Gmcl1
|
UTSW |
6 |
86,684,397 (GRCm39) |
missense |
probably benign |
0.00 |
R7999:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8049:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8093:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8109:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8111:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8157:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8208:Gmcl1
|
UTSW |
6 |
86,698,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R8250:Gmcl1
|
UTSW |
6 |
86,698,384 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8509:Gmcl1
|
UTSW |
6 |
86,699,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R9264:Gmcl1
|
UTSW |
6 |
86,691,195 (GRCm39) |
missense |
probably benign |
0.25 |
R9308:Gmcl1
|
UTSW |
6 |
86,691,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9350:Gmcl1
|
UTSW |
6 |
86,677,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGAAGCAGTATTTCCAGC -3'
(R):5'- CAGTGTTAGCTAGCTCAGGAG -3'
Sequencing Primer
(F):5'- GCTTTTCACCACAGAAGCAATGTG -3'
(R):5'- TAAATTCAAGCCCTAGACCTGTGGG -3'
|
Posted On |
2016-12-20 |