Incidental Mutation 'R5854:Gmcl1'
| ID |
490507 |
| 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 |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.426)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86668750-86710365 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 86691241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001185]
|
| AlphaFold |
Q920G9 |
| Predicted Effect |
silent
Transcript: ENSMUST00000001185
|
| SMART Domains |
Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
R5817:Gmcl1
|
UTSW |
6 |
86,691,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTTCCAGCTTTTCACCACAGAAG -3'
(R):5'- TGCAGTGTTAGCTAGCTCAG -3'
Sequencing Primer
(F):5'- GCTTTTCACCACAGAAGCAATGTG -3'
(R):5'- TAAATTCAAGCCCTAGACCTGTGGG -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation