Incidental Mutation 'IGL03040:Zglp1'
ID |
408859 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zglp1
|
Ensembl Gene |
ENSMUSG00000079681 |
Gene Name |
zinc finger, GATA-like protein 1 |
Synonyms |
Glp1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
IGL03040
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
20973689-20978389 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20974622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 189
(S189C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010348]
[ENSMUST00000115494]
[ENSMUST00000213826]
[ENSMUST00000217359]
|
AlphaFold |
Q1WG82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010348
|
SMART Domains |
Protein: ENSMUSP00000010348 Gene: ENSMUSG00000079677
Domain | Start | End | E-Value | Type |
Pfam:Fer2
|
64 |
147 |
5.3e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115494
AA Change: S189C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111157 Gene: ENSMUSG00000079681 AA Change: S189C
Domain | Start | End | E-Value | Type |
Pfam:GATA
|
197 |
231 |
7.8e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216484
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216967
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217282
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217150
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations result in female and male infertility due to failure of germ cell development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
C |
A |
6: 142,598,323 (GRCm39) |
G672* |
probably null |
Het |
Adamts19 |
T |
A |
18: 59,036,080 (GRCm39) |
S422T |
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,571,450 (GRCm39) |
L175* |
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,733,484 (GRCm39) |
L986P |
probably damaging |
Het |
Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
Bnip5 |
A |
G |
17: 29,134,176 (GRCm39) |
M11T |
probably benign |
Het |
Cldn5 |
A |
G |
16: 18,596,380 (GRCm39) |
Y212C |
probably damaging |
Het |
Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,969,672 (GRCm39) |
S80P |
probably damaging |
Het |
Extl1 |
A |
T |
4: 134,087,940 (GRCm39) |
|
probably benign |
Het |
Fam237b |
C |
A |
5: 5,625,566 (GRCm39) |
Y87* |
probably null |
Het |
Fbxo38 |
T |
C |
18: 62,660,323 (GRCm39) |
H296R |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,857,960 (GRCm39) |
I2085V |
probably benign |
Het |
Gpd2 |
A |
T |
2: 57,245,805 (GRCm39) |
E445V |
probably benign |
Het |
Grm8 |
C |
T |
6: 28,126,122 (GRCm39) |
M1I |
probably null |
Het |
Hnf4g |
T |
A |
3: 3,699,271 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,289,136 (GRCm39) |
|
probably null |
Het |
Kmt2c |
T |
C |
5: 25,515,350 (GRCm39) |
Q2831R |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,587,610 (GRCm39) |
|
probably benign |
Het |
Pbx1 |
C |
A |
1: 168,255,515 (GRCm39) |
|
probably benign |
Het |
Prkg2 |
C |
T |
5: 99,120,966 (GRCm39) |
|
probably null |
Het |
Scn10a |
T |
A |
9: 119,452,051 (GRCm39) |
I1291F |
probably damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,122,481 (GRCm39) |
G414D |
probably benign |
Het |
Syn2 |
C |
T |
6: 115,240,926 (GRCm39) |
T432I |
possibly damaging |
Het |
Tnpo1 |
T |
C |
13: 98,996,463 (GRCm39) |
E446G |
probably damaging |
Het |
Topbp1 |
C |
T |
9: 103,205,866 (GRCm39) |
L835F |
possibly damaging |
Het |
Ubald1 |
G |
T |
16: 4,693,626 (GRCm39) |
S96R |
possibly damaging |
Het |
Utp6 |
C |
A |
11: 79,826,939 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
C |
A |
6: 57,382,347 (GRCm39) |
P300Q |
unknown |
Het |
Vmn1r220 |
T |
C |
13: 23,367,952 (GRCm39) |
D248G |
possibly damaging |
Het |
|
Other mutations in Zglp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01718:Zglp1
|
APN |
9 |
20,974,675 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02039:Zglp1
|
APN |
9 |
20,978,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02682:Zglp1
|
APN |
9 |
20,977,534 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4515001:Zglp1
|
UTSW |
9 |
20,977,485 (GRCm39) |
missense |
probably benign |
0.01 |
R0366:Zglp1
|
UTSW |
9 |
20,974,675 (GRCm39) |
missense |
probably benign |
0.31 |
R4174:Zglp1
|
UTSW |
9 |
20,977,366 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4888:Zglp1
|
UTSW |
9 |
20,973,957 (GRCm39) |
missense |
probably benign |
0.00 |
R5121:Zglp1
|
UTSW |
9 |
20,973,957 (GRCm39) |
missense |
probably benign |
0.00 |
R7103:Zglp1
|
UTSW |
9 |
20,977,368 (GRCm39) |
missense |
probably benign |
0.30 |
R7481:Zglp1
|
UTSW |
9 |
20,973,903 (GRCm39) |
missense |
probably benign |
|
R7581:Zglp1
|
UTSW |
9 |
20,974,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R9109:Zglp1
|
UTSW |
9 |
20,977,482 (GRCm39) |
missense |
probably benign |
0.08 |
R9298:Zglp1
|
UTSW |
9 |
20,977,482 (GRCm39) |
missense |
probably benign |
0.08 |
Z1088:Zglp1
|
UTSW |
9 |
20,978,296 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2016-08-02 |