Incidental Mutation 'R8111:Gmcl1'
| ID |
630864 |
| 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 |
067540-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
R8111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86668750-86710365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86698408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 163
(A163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001185]
[ENSMUST00000113679]
|
| AlphaFold |
Q920G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001185
AA Change: A163E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: A163E
| 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 |
probably damaging
Transcript: ENSMUST00000113679
AA Change: A163E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109309
Gene: ENSMUSG00000001157
AA Change: A163E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
96 |
195 |
5.5e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.5268 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 93.2%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,382,266 (GRCm39) |
W1233* |
probably null |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,691 (GRCm39) |
I247V |
probably benign |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,077 (GRCm39) |
C50S |
unknown |
Het |
| Adam29 |
T |
G |
8: 56,324,585 (GRCm39) |
H623P |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,203 (GRCm39) |
V318A |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,614,058 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,113,530 (GRCm39) |
I893T |
unknown |
Het |
| Apob |
G |
A |
12: 8,058,801 (GRCm39) |
A2428T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,301,674 (GRCm39) |
V660A |
probably benign |
Het |
| Atf7 |
G |
T |
15: 102,471,769 (GRCm39) |
T42K |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,366 (GRCm39) |
I160N |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,832,786 (GRCm39) |
V429A |
possibly damaging |
Het |
| Bpifb3 |
A |
C |
2: 153,764,609 (GRCm39) |
H167P |
probably benign |
Het |
| Cacna1f |
G |
T |
X: 7,487,326 (GRCm39) |
E921D |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,769,713 (GRCm39) |
L713F |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,494,526 (GRCm39) |
E385K |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,967,306 (GRCm39) |
V3186I |
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,448,185 (GRCm39) |
D349E |
probably benign |
Het |
| Dlg1 |
C |
T |
16: 31,661,620 (GRCm39) |
T657M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,148,688 (GRCm39) |
I919V |
probably benign |
Het |
| Dync2i2 |
C |
A |
2: 29,921,859 (GRCm39) |
A501S |
possibly damaging |
Het |
| Eml5 |
A |
G |
12: 98,758,773 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
A |
17: 87,125,860 (GRCm39) |
S286* |
probably null |
Het |
| Fat1 |
G |
A |
8: 45,479,095 (GRCm39) |
V2714I |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,390,545 (GRCm39) |
M447T |
probably benign |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
A |
C |
17: 57,410,427 (GRCm39) |
C24G |
probably null |
Het |
| Gm6176 |
T |
A |
7: 21,750,593 (GRCm39) |
I113F |
probably benign |
Het |
| Gpat2 |
G |
T |
2: 127,275,777 (GRCm39) |
L518F |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hgsnat |
C |
T |
8: 26,458,440 (GRCm39) |
V195I |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,955,583 (GRCm39) |
S1300T |
probably damaging |
Het |
| Hs3st2 |
A |
T |
7: 120,992,362 (GRCm39) |
H137L |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,122,781 (GRCm39) |
S188P |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,654,225 (GRCm39) |
D684G |
probably damaging |
Het |
| Lrba |
C |
A |
3: 86,235,012 (GRCm39) |
N852K |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,930 (GRCm39) |
S425P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,674,003 (GRCm39) |
S562T |
possibly damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,064 (GRCm39) |
V380A |
probably benign |
Het |
| Mgat4d |
A |
T |
8: 84,094,776 (GRCm39) |
N271I |
probably damaging |
Het |
| Mmp24 |
T |
A |
2: 155,649,345 (GRCm39) |
V254E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,503,925 (GRCm39) |
R6455S |
possibly damaging |
Het |
| Npffr1 |
T |
A |
10: 61,459,128 (GRCm39) |
V127E |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,541 (GRCm39) |
N165K |
probably damaging |
Het |
| Or10g3b |
G |
A |
14: 52,587,344 (GRCm39) |
T53M |
possibly damaging |
Het |
| Otulin |
A |
C |
15: 27,606,381 (GRCm39) |
V344G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,180,229 (GRCm39) |
D1030G |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Ppp2r3c |
C |
A |
12: 55,344,634 (GRCm39) |
M111I |
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,494,747 (GRCm39) |
T13A |
probably benign |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sgo2b |
T |
A |
8: 64,396,138 (GRCm39) |
K39N |
probably damaging |
Het |
| Sike1 |
T |
C |
3: 102,909,123 (GRCm39) |
*208Q |
probably null |
Het |
| Spire1 |
A |
G |
18: 67,652,391 (GRCm39) |
S229P |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,857 (GRCm39) |
I132V |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,190,792 (GRCm39) |
V213A |
probably damaging |
Het |
| Washc1 |
C |
G |
17: 66,423,033 (GRCm39) |
Q116E |
probably benign |
Het |
| Zfp553 |
T |
A |
7: 126,836,093 (GRCm39) |
C549* |
probably null |
Het |
| Zfp9 |
G |
A |
6: 118,441,561 (GRCm39) |
P367L |
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 |
|
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 |
|
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'- CCCATCCAGTTCACACAGTG -3'
(R):5'- GGCAGAATCCTTTCCAACAAGC -3'
Sequencing Primer
(F):5'- GTTCACACAGTGATCAAAGACCTTC -3'
(R):5'- AGGTGCAGACTAATGTCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation