Incidental Mutation 'R4566:Foxq1'
| ID |
343327 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
31742153-31744959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31743471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 191
(M191T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042118]
[ENSMUST00000170573]
|
| AlphaFold |
O70220 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042118
AA Change: M191T
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: M191T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
| Apol7a |
A |
T |
15: 77,273,951 (GRCm39) |
Y170* |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,301 (GRCm39) |
P510T |
possibly damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,058,203 (GRCm39) |
R893C |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
| Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,100,723 (GRCm39) |
V48A |
possibly damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
| Yy1 |
T |
A |
12: 108,778,889 (GRCm39) |
I296K |
probably 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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCGCTCTCATCGCCATG -3'
(R):5'- AGGAGCTGGAGAACTTGCTC -3'
Sequencing Primer
(F):5'- TCATCGCCATGGCCATCCG -3'
(R):5'- TGGAGAACTTGCTCGCAGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation