Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02217:Foxq1'

284956

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) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

31742153-31744959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31743152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 85 (S85C)

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: S85C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: S85C

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

unknown
Transcript: ENSMUST00000170573
AA Change: C34S

SMART Domains

Protein: ENSMUSP00000129167
Gene: ENSMUSG00000090863
AA Change: C34S

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,603,955 (GRCm39)		probably benign	Het
Actn1	G	A	12: 80,220,868 (GRCm39)	Q647*	probably null	Het
Adamts6	T	A	13: 104,598,873 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabin1	G	A	10: 75,535,881 (GRCm39)	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,177,059 (GRCm39)		probably benign	Het
Clca4a	T	A	3: 144,667,757 (GRCm39)	T405S	possibly damaging	Het
Cntln	G	A	4: 85,018,495 (GRCm39)	V1168M	probably damaging	Het
Col18a1	A	G	10: 76,889,132 (GRCm39)	S1494P	probably damaging	Het
Cps1	A	T	1: 67,213,541 (GRCm39)	T758S	probably benign	Het
Cul3	A	T	1: 80,261,484 (GRCm39)	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,305,953 (GRCm39)		probably null	Het
Dennd4c	T	A	4: 86,732,036 (GRCm39)	C917S	probably benign	Het
Dhrs11	A	T	11: 84,713,221 (GRCm39)	Y166*	probably null	Het
Dtl	A	G	1: 191,300,426 (GRCm39)	V146A	probably damaging	Het
Exosc9	A	G	3: 36,606,893 (GRCm39)	E20G	probably damaging	Het
Fer	A	G	17: 64,445,960 (GRCm39)	K437R	probably benign	Het
Fkbp6	A	T	5: 135,366,484 (GRCm39)	V284E	probably benign	Het
Galnt12	T	A	4: 47,113,832 (GRCm39)	S83R	probably damaging	Het
Gpr156	A	G	16: 37,825,673 (GRCm39)	D630G	probably benign	Het
Hace1	A	T	10: 45,466,471 (GRCm39)		probably null	Het
Hemgn	G	T	4: 46,396,420 (GRCm39)	T272K	probably damaging	Het
Ifi213	T	G	1: 173,422,598 (GRCm39)	E89A	possibly damaging	Het
Jarid2	A	G	13: 45,066,677 (GRCm39)	E954G	probably damaging	Het
Kcnu1	A	G	8: 26,348,212 (GRCm39)	D126G	probably damaging	Het
Lbh	A	T	17: 73,228,247 (GRCm39)	I31F	possibly damaging	Het
Lrrc37	T	C	11: 103,503,697 (GRCm39)		probably benign	Het
Mdfic2	T	A	6: 98,225,033 (GRCm39)	E83D	possibly damaging	Het
Muc6	T	C	7: 141,235,889 (GRCm39)	E490G	probably damaging	Het
Ncoa3	T	C	2: 165,897,266 (GRCm39)	S686P	probably damaging	Het
Nme4	A	G	17: 26,312,834 (GRCm39)	M108T	probably damaging	Het
Nod1	A	C	6: 54,920,404 (GRCm39)	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,383,502 (GRCm39)	N70S	probably damaging	Het
Or2bd2	T	A	7: 6,443,244 (GRCm39)	I115N	probably damaging	Het
Or5as1	A	G	2: 86,980,231 (GRCm39)	M258T	probably benign	Het
Pitrm1	G	A	13: 6,617,377 (GRCm39)		probably benign	Het
Proser1	A	G	3: 53,378,912 (GRCm39)	K115E	probably damaging	Het
Ptov1	C	T	7: 44,516,900 (GRCm39)	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,328,685 (GRCm39)		probably null	Het
Rbbp8nl	A	G	2: 179,919,981 (GRCm39)		probably benign	Het
Rplp1rt	A	T	19: 12,824,227 (GRCm39)		noncoding transcript	Het
Rtn3	G	A	19: 7,412,449 (GRCm39)	T794I	probably damaging	Het
Setd4	A	G	16: 93,390,183 (GRCm39)	L82P	probably damaging	Het
Shank2	C	T	7: 143,838,784 (GRCm39)	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,750,568 (GRCm39)	V45G	probably damaging	Het
Utrn	A	G	10: 12,627,303 (GRCm39)	F57S	probably damaging	Het
Vcan	T	G	13: 89,851,196 (GRCm39)	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,487,676 (GRCm39)	H183P	probably damaging	Het
Wdr48	T	C	9: 119,738,601 (GRCm39)	I286T	probably benign	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
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

2015-04-16