Incidental Mutation 'R6607:Foxq1'
| ID |
525764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxq1
|
| Ensembl Gene |
ENSMUSG00000038415 |
| Gene Name |
forkhead box Q1 |
| Synonyms |
Hfh1, sa, Hfh1l, HFH-1 |
| MMRRC Submission |
044730-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.502)
|
| Stock # |
R6607 (G1)
|
| Quality Score |
120.008 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
31742153-31744959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31743129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 77
(D77G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042118]
[ENSMUST00000170573]
|
| AlphaFold |
O70220 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042118
AA Change: D77G
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: D77G
| 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 |
silent
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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (27/28) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,507 (GRCm39) |
D92G |
possibly damaging |
Het |
| Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
| Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
| Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,163,128 (GRCm39) |
D172G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
| Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
| Esyt2 |
G |
A |
12: 116,332,360 (GRCm39) |
D781N |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,270 (GRCm39) |
T106S |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
| Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
| Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Rbks |
C |
T |
5: 31,805,136 (GRCm39) |
V243M |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,891 (GRCm39) |
Y224C |
probably benign |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
| Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
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 |
|
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 |
|
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'- ATTGGAGGTGTTCGTCCCAC -3'
(R):5'- TACTCGTTGATCTCGGCCAG -3'
Sequencing Primer
(F):5'- CAAAATGGGCAGCGATCTG -3'
(R):5'- TGATCTCGGCCAGTGTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation