Incidental Mutation 'IGL00401:Foxq1'
| ID |
4325 |
| 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 non essential
(E-score: 0.499)
|
| Stock # |
IGL00401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
31742153-31744959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31743260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 121
(I121F)
|
| 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: I121F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: I121F
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,202,743 (GRCm39) |
D1164V |
probably damaging |
Het |
| Baiap3 |
T |
G |
17: 25,463,302 (GRCm39) |
L964F |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,392,072 (GRCm39) |
V471E |
probably damaging |
Het |
| Carmil3 |
C |
T |
14: 55,735,755 (GRCm39) |
T569M |
probably damaging |
Het |
| Dapk2 |
G |
T |
9: 66,176,060 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,138,682 (GRCm39) |
Y291* |
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,541,357 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
T |
G |
2: 53,004,929 (GRCm39) |
D674E |
probably damaging |
Het |
| Galnt13 |
C |
T |
2: 54,406,547 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,389,782 (GRCm39) |
|
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,323,609 (GRCm39) |
F146Y |
possibly damaging |
Het |
| Gm7353 |
A |
G |
7: 3,160,630 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,071,633 (GRCm39) |
|
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,050 (GRCm39) |
D56G |
possibly damaging |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,543 (GRCm39) |
C39S |
unknown |
Het |
| Lgsn |
A |
G |
1: 31,242,647 (GRCm39) |
K243R |
possibly damaging |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Mettl3 |
T |
A |
14: 52,534,424 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,190,874 (GRCm39) |
M934L |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,969,863 (GRCm39) |
|
probably null |
Het |
| Pias2 |
T |
A |
18: 77,220,907 (GRCm39) |
C381S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,937,712 (GRCm39) |
D887E |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,194,745 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
C |
3: 133,172,643 (GRCm39) |
E1873G |
possibly damaging |
Het |
| Txlng |
T |
A |
X: 161,565,305 (GRCm39) |
K341* |
probably null |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,340 (GRCm39) |
T369S |
possibly damaging |
Het |
| Usp46 |
C |
A |
5: 74,163,832 (GRCm39) |
V302F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,808,683 (GRCm39) |
C1454R |
probably benign |
Het |
|
| Other mutations in Foxq1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Foxq1
|
APN |
13 |
31,743,434 (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 |
2012-04-20 |
Incidental Mutation