Incidental Mutation 'IGL01398:Foxq1'
ID |
79528 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Foxq1
|
Ensembl Gene |
ENSMUSG00000038415 |
Gene Name |
forkhead box Q1 |
Synonyms |
Hfh1, sa, Hfh1l, HFH-1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.502)
|
Stock # |
IGL01398
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
31742153-31744959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 31743434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 179
(D179N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036952
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042118]
[ENSMUST00000170573]
|
AlphaFold |
O70220 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042118
AA Change: D179N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036952 Gene: ENSMUSG00000038415 AA Change: D179N
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
72 |
N/A |
INTRINSIC |
low complexity region
|
89 |
105 |
N/A |
INTRINSIC |
FH
|
113 |
204 |
3.98e-50 |
SMART |
low complexity region
|
206 |
211 |
N/A |
INTRINSIC |
low complexity region
|
225 |
254 |
N/A |
INTRINSIC |
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
low complexity region
|
296 |
325 |
N/A |
INTRINSIC |
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170573
|
SMART Domains |
Protein: ENSMUSP00000129167 Gene: ENSMUSG00000090863
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
low complexity region
|
44 |
67 |
N/A |
INTRINSIC |
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
low complexity region
|
168 |
186 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009] PHENOTYPE: Mutations in this gene affect coat color and texture. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Best2 |
T |
A |
8: 85,735,956 (GRCm39) |
Y326F |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,722,512 (GRCm39) |
T287A |
possibly damaging |
Het |
Cyp26a1 |
C |
T |
19: 37,686,395 (GRCm39) |
T13I |
probably damaging |
Het |
Dhcr7 |
T |
C |
7: 143,395,056 (GRCm39) |
S188P |
probably damaging |
Het |
Eml3 |
T |
G |
19: 8,911,598 (GRCm39) |
|
probably benign |
Het |
Faf1 |
A |
T |
4: 109,593,793 (GRCm39) |
I124F |
probably damaging |
Het |
Fkbp9 |
T |
A |
6: 56,837,790 (GRCm39) |
|
probably benign |
Het |
Frem1 |
C |
T |
4: 82,868,599 (GRCm39) |
V1443M |
possibly damaging |
Het |
Gpnmb |
T |
A |
6: 49,027,365 (GRCm39) |
M363K |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,535,762 (GRCm39) |
|
probably benign |
Het |
Ints3 |
A |
G |
3: 90,300,130 (GRCm39) |
L929P |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,019,964 (GRCm39) |
I1823F |
probably damaging |
Het |
Nudt9 |
T |
C |
5: 104,212,979 (GRCm39) |
*351Q |
probably null |
Het |
Or2ak6 |
A |
T |
11: 58,592,593 (GRCm39) |
H22L |
probably benign |
Het |
Or4c107 |
C |
T |
2: 88,789,193 (GRCm39) |
P128S |
probably damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,032 (GRCm39) |
F257I |
probably damaging |
Het |
Pgr15l |
C |
T |
X: 96,121,785 (GRCm39) |
T392I |
probably benign |
Het |
Sdk1 |
C |
A |
5: 141,923,332 (GRCm39) |
L318I |
probably benign |
Het |
Sult1c2 |
C |
A |
17: 54,269,180 (GRCm39) |
V279L |
possibly damaging |
Het |
Tek |
T |
C |
4: 94,738,014 (GRCm39) |
I688T |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,324,748 (GRCm39) |
D477E |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,789,997 (GRCm39) |
Y884N |
probably damaging |
Het |
Upf3a |
C |
A |
8: 13,836,221 (GRCm39) |
H92Q |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
Vps54 |
A |
G |
11: 21,245,403 (GRCm39) |
|
probably benign |
Het |
Zdhhc14 |
T |
C |
17: 5,762,738 (GRCm39) |
I214T |
possibly damaging |
Het |
|
Other mutations in Foxq1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Foxq1
|
APN |
13 |
31,743,260 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Foxq1
|
APN |
13 |
31,743,152 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02471:Foxq1
|
APN |
13 |
31,743,326 (GRCm39) |
missense |
possibly damaging |
0.87 |
H8786:Foxq1
|
UTSW |
13 |
31,743,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Foxq1
|
UTSW |
13 |
31,743,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R2436:Foxq1
|
UTSW |
13 |
31,742,516 (GRCm39) |
utr 3 prime |
probably benign |
|
R4566:Foxq1
|
UTSW |
13 |
31,743,471 (GRCm39) |
missense |
probably benign |
0.17 |
R4612:Foxq1
|
UTSW |
13 |
31,742,808 (GRCm39) |
start gained |
probably benign |
|
R5761:Foxq1
|
UTSW |
13 |
31,743,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R6230:Foxq1
|
UTSW |
13 |
31,743,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6607:Foxq1
|
UTSW |
13 |
31,743,129 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7983:Foxq1
|
UTSW |
13 |
31,743,972 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8321:Foxq1
|
UTSW |
13 |
31,743,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R9619:Foxq1
|
UTSW |
13 |
31,743,580 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-11-05 |