Mutagenetix > Incidental Mutation

Incidental Mutation 'R8898:Foxd1'

678195

Institutional Source

Beutler Lab

Gene Symbol

Foxd1

Ensembl Gene

ENSMUSG00000078302

Gene Name

forkhead box D1

Synonyms

Hfh10, BF-2, FREAC4, Hfhbf2

MMRRC Submission

068755-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98490753-98493213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98491596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 157 (C157S)

Ref Sequence

ENSEMBL: ENSMUSP00000100725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105098]

AlphaFold

Q61345

Predicted Effect

probably damaging
Transcript: ENSMUST00000105098
AA Change: C157S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100725
Gene: ENSMUSG00000078302
AA Change: C157S

Domain	Start	End	E-Value	Type
low complexity region	23	46	N/A	INTRINSIC
low complexity region	63	79	N/A	INTRINSIC
low complexity region	83	124	N/A	INTRINSIC
FH	128	218	7.63e-61	SMART
low complexity region	231	280	N/A	INTRINSIC
low complexity region	282	323	N/A	INTRINSIC
low complexity region	336	361	N/A	INTRINSIC
low complexity region	378	434	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for this targeted mutation die within 24 hours after birth with severe defects in nephrogenesis, and abnormal development of the renal collecting system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,001 (GRCm39)	L988*	probably null	Het
4930546C10Rik	A	G	18: 69,083,106 (GRCm39)	F36S	unknown	Het
Acan	C	A	7: 78,750,101 (GRCm39)	T1624K	possibly damaging	Het
Ambn	T	C	5: 88,613,051 (GRCm39)		probably null	Het
Ankrd24	T	C	10: 81,478,352 (GRCm39)	I437T	unknown	Het
Arl4d	C	T	11: 101,557,827 (GRCm39)	R118W	probably damaging	Het
Atg2a	A	G	19: 6,306,721 (GRCm39)		probably benign	Het
Bcan	T	C	3: 87,895,695 (GRCm39)	T814A	probably benign	Het
Brca2	T	A	5: 150,492,498 (GRCm39)	M3171K	possibly damaging	Het
Cd209a	T	A	8: 3,798,739 (GRCm39)	S23C	probably damaging	Het
Chek2	A	T	5: 111,011,175 (GRCm39)	K324N	probably benign	Het
Col12a1	C	T	9: 79,599,577 (GRCm39)	V859I	probably benign	Het
Cyp7b1	C	T	3: 18,150,788 (GRCm39)	R317H	probably benign	Het
Dmxl2	A	G	9: 54,308,941 (GRCm39)	S1937P	probably benign	Het
Epb41l1	T	G	2: 156,335,869 (GRCm39)	V11G	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fat3	G	A	9: 15,858,822 (GRCm39)	P3798L	probably benign	Het
Gja10	T	C	4: 32,601,058 (GRCm39)	Q442R	probably benign	Het
Gm17019	A	C	5: 15,081,798 (GRCm39)	M47R	possibly damaging	Het
Gpr179	C	A	11: 97,242,329 (GRCm39)	E172*	probably null	Het
Grhl1	G	A	12: 24,634,945 (GRCm39)		probably null	Het
Gtf2ird2	A	T	5: 134,226,106 (GRCm39)	E184V	probably benign	Het
Hace1	A	G	10: 45,576,766 (GRCm39)	I813V	probably benign	Het
Hk2	A	T	6: 82,715,379 (GRCm39)	L385Q	probably damaging	Het
Htt	C	T	5: 34,976,376 (GRCm39)	T726I	probably benign	Het
Itga8	T	C	2: 12,145,206 (GRCm39)	S916G	probably benign	Het
Jag1	A	T	2: 136,935,175 (GRCm39)	F396I	probably damaging	Het
Kif16b	A	G	2: 142,554,899 (GRCm39)	M633T	possibly damaging	Het
Klf5	T	A	14: 99,538,922 (GRCm39)	F112I	probably damaging	Het
Lama1	A	T	17: 68,128,610 (GRCm39)	Q2989L		Het
Lrrc28	C	A	7: 67,278,042 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,859,931 (GRCm39)	T739A	possibly damaging	Het
Mbd3l2	A	T	9: 18,355,914 (GRCm39)	R80*	probably null	Het
Mctp2	T	C	7: 71,752,904 (GRCm39)	E783G	probably damaging	Het
Mill2	A	T	7: 18,590,489 (GRCm39)	M190L	probably benign	Het
N4bp3	T	C	11: 51,535,256 (GRCm39)	N311S	probably benign	Het
Nanos2	A	T	7: 18,721,549 (GRCm39)	D7V	probably damaging	Het
Ndufs7	T	A	10: 80,089,619 (GRCm39)		probably null	Het
Nexn	T	C	3: 151,948,306 (GRCm39)	N483S	probably benign	Het
Nlrp1b	T	G	11: 71,073,288 (GRCm39)	E185A	probably damaging	Het
Nop2	C	A	6: 125,114,118 (GRCm39)	Q195K	probably benign	Het
Or4a15	A	G	2: 89,192,957 (GRCm39)	V272A	possibly damaging	Het
Or4n4	G	A	14: 50,518,952 (GRCm39)	P253S	probably damaging	Het
Pde12	G	A	14: 26,390,577 (GRCm39)	S44L	probably benign	Het
Pde1c	A	T	6: 56,114,371 (GRCm39)	V514E	probably damaging	Het
Pdzph1	A	T	17: 59,281,334 (GRCm39)	V316D	probably benign	Het
Prl3c1	A	T	13: 27,387,578 (GRCm39)	I208F	possibly damaging	Het
Raver2	G	A	4: 100,964,399 (GRCm39)		probably null	Het
Rpl13a-ps1	T	A	19: 50,018,747 (GRCm39)	H143L	probably benign	Het
Septin14	A	T	5: 129,760,642 (GRCm39)	I402K	possibly damaging	Het
Sla2	T	A	2: 156,717,885 (GRCm39)	Y129F	possibly damaging	Het
Smarca2	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	19: 26,608,358 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,911,567 (GRCm39)	S1448P	probably damaging	Het
Spast	G	A	17: 74,695,273 (GRCm39)	R604H	probably damaging	Het
Speg	G	A	1: 75,365,517 (GRCm39)	G633S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Syt11	T	C	3: 88,669,335 (GRCm39)	M186V	probably benign	Het
Tex26	C	A	5: 149,380,369 (GRCm39)	N133K	probably benign	Het
Tnfrsf17	T	C	16: 11,131,910 (GRCm39)	C32R	probably damaging	Het
Trem1	T	A	17: 48,544,374 (GRCm39)	V133E	probably damaging	Het
Trpm7	A	T	2: 126,664,661 (GRCm39)	M906K	possibly damaging	Het
Ugt2b35	T	A	5: 87,159,189 (GRCm39)	I461K	possibly damaging	Het
Vmn2r77	T	A	7: 86,444,430 (GRCm39)	C28S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		probably benign	Het

Other mutations in Foxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1674:Foxd1	UTSW	13	98,491,347 (GRCm39)	missense	unknown
R2328:Foxd1	UTSW	13	98,491,660 (GRCm39)	missense	probably damaging	1.00
R3747:Foxd1	UTSW	13	98,492,424 (GRCm39)	missense	unknown
R3750:Foxd1	UTSW	13	98,492,424 (GRCm39)	missense	unknown
R5524:Foxd1	UTSW	13	98,492,412 (GRCm39)	missense	unknown
R5846:Foxd1	UTSW	13	98,491,549 (GRCm39)	missense	probably damaging	1.00
R6880:Foxd1	UTSW	13	98,491,225 (GRCm39)	missense	unknown
R9103:Foxd1	UTSW	13	98,491,763 (GRCm39)	missense	possibly damaging	0.66
Z1176:Foxd1	UTSW	13	98,492,446 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TATGACCCTGAGCACGGAGATG -3'
(R):5'- TCGAACATATCTGCGGACTCC -3'

Sequencing Primer
(F):5'- ACGATCTCGAGGACCTGGAG -3'
(R):5'- CGGGTCGAGCGTCCAGTAG -3'

Posted On

2021-08-02