Mutagenetix > Incidental Mutation

Incidental Mutation 'R6880:Foxd1'

548882

Institutional Source

Beutler Lab

Gene Symbol

Foxd1

Ensembl Gene

ENSMUSG00000078302

Gene Name

forkhead box D1

Synonyms

Hfh10, BF-2, FREAC4, Hfhbf2

MMRRC Submission

044976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6880 (G1)

Quality Score

54.0072

Status

Validated

Chromosome

Chromosomal Location

98490753-98493213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98491225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 33 (D33A)

Ref Sequence

ENSEMBL: ENSMUSP00000100725 (fasta)

Gene Model

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

AlphaFold

Q61345

Predicted Effect

unknown
Transcript: ENSMUST00000105098
AA Change: D33A

SMART Domains

Protein: ENSMUSP00000100725
Gene: ENSMUSG00000078302
AA Change: D33A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,123,854 (GRCm39)		probably null	Het
Aff3	T	C	1: 38,574,243 (GRCm39)	H206R	probably damaging	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Alg5	A	G	3: 54,646,264 (GRCm39)	E43G	probably damaging	Het
Ankrd36	T	C	11: 5,578,748 (GRCm39)	L4P	probably damaging	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Atf7ip	A	G	6: 136,538,038 (GRCm39)	I432V	probably damaging	Het
B230307C23Rik	T	C	16: 97,798,627 (GRCm39)		probably benign	Het
Baz2b	T	A	2: 59,743,283 (GRCm39)	N1563Y	probably damaging	Het
Bhlha15	A	T	5: 144,128,451 (GRCm39)	T188S	probably damaging	Het
Cbr3	T	C	16: 93,487,426 (GRCm39)	V203A	probably benign	Het
Cpsf1	T	C	15: 76,486,739 (GRCm39)	T266A	probably benign	Het
Dnah7c	T	C	1: 46,566,831 (GRCm39)	Y681H	probably damaging	Het
Dock2	C	T	11: 34,579,279 (GRCm39)		probably null	Het
Dsc1	T	A	18: 20,221,429 (GRCm39)	D682V	probably damaging	Het
Fkbp15	A	T	4: 62,254,732 (GRCm39)	I256N	possibly damaging	Het
Gid4	T	A	11: 60,327,261 (GRCm39)	F149I	probably damaging	Het
Hmcn2	G	T	2: 31,233,068 (GRCm39)	V206L	probably damaging	Het
Ighg2b	T	C	12: 113,270,726 (GRCm39)	I135V		Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Impg1	T	A	9: 80,312,082 (GRCm39)	D167V	probably damaging	Het
Jakmip1	T	C	5: 37,262,967 (GRCm39)	S372P	possibly damaging	Het
Kcnb1	T	C	2: 166,947,727 (GRCm39)	T374A	probably damaging	Het
Lrrn4	A	G	2: 132,714,032 (GRCm39)	S305P	probably damaging	Het
Ltbp1	C	T	17: 75,628,044 (GRCm39)	T1179I	possibly damaging	Het
Mab21l2	A	G	3: 86,454,463 (GRCm39)	I179T	possibly damaging	Het
Myo5b	A	T	18: 74,855,501 (GRCm39)	H1230L	probably benign	Het
Myocos	T	C	1: 162,484,602 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,999 (GRCm39)	T249A	probably damaging	Het
Oas1a	C	A	5: 121,040,003 (GRCm39)	R196L	probably damaging	Het
Or2ag18	A	T	7: 106,405,019 (GRCm39)	S217T	probably damaging	Het
Or5an11	A	G	19: 12,245,974 (GRCm39)	I127V	probably benign	Het
Or8k41	A	G	2: 86,314,069 (GRCm39)	F6L	probably benign	Het
Phxr2	G	A	10: 98,961,946 (GRCm39)		probably benign	Het
Pigq	A	G	17: 26,153,802 (GRCm39)	L85P	probably damaging	Het
Pla2g4a	T	A	1: 149,727,202 (GRCm39)	D518V	possibly damaging	Het
Pm20d1	A	G	1: 131,731,839 (GRCm39)	K294E	probably benign	Het
Polr3d	C	A	14: 70,677,455 (GRCm39)	R307L	probably benign	Het
Pou5f2	T	C	13: 78,173,613 (GRCm39)	L185P	possibly damaging	Het
Prex2	A	T	1: 11,202,608 (GRCm39)	N506Y	probably damaging	Het
Proser1	T	A	3: 53,385,260 (GRCm39)	S381T	probably benign	Het
Prpf4b	T	C	13: 35,078,436 (GRCm39)	V682A	possibly damaging	Het
Prr14l	A	T	5: 32,988,211 (GRCm39)	L428Q	probably benign	Het
Prss23	A	G	7: 89,160,033 (GRCm39)	V12A	probably benign	Het
Qki	T	C	17: 10,434,376 (GRCm39)	D321G	probably benign	Het
Rab11fip5	A	G	6: 85,325,827 (GRCm39)	L193P	probably damaging	Het
Retreg1	T	G	15: 25,971,825 (GRCm39)	L245R	probably damaging	Het
Rfc1	T	C	5: 65,434,729 (GRCm39)	N679S	probably benign	Het
Rpl4	C	T	9: 64,084,335 (GRCm39)	A220V	probably damaging	Het
Rxra	G	A	2: 27,638,668 (GRCm39)	E224K	possibly damaging	Het
Slc26a7	A	G	4: 14,516,159 (GRCm39)	C557R	possibly damaging	Het
Sncaip	A	G	18: 53,002,136 (GRCm39)	K219R	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sphkap	A	G	1: 83,234,978 (GRCm39)	V1616A	probably damaging	Het
Sulf1	T	C	1: 12,912,979 (GRCm39)	C738R	probably damaging	Het
Suz12	T	A	11: 79,892,998 (GRCm39)	C38*	probably null	Het
Ttn	T	C	2: 76,550,842 (GRCm39)	T23190A	probably damaging	Het
Twnk	A	G	19: 44,995,855 (GRCm39)	D96G	probably benign	Het
Vcan	T	A	13: 89,860,500 (GRCm39)	N289I	probably damaging	Het
Vmn2r120	A	T	17: 57,816,187 (GRCm39)	S723T	probably damaging	Het
Vmn2r97	A	T	17: 19,134,770 (GRCm39)	I63F	probably benign	Het
Washc5	T	C	15: 59,222,021 (GRCm39)	N125S	probably benign	Het
Zfp865	A	G	7: 5,033,548 (GRCm39)	Y511C	probably damaging	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
R8898:Foxd1	UTSW	13	98,491,596 (GRCm39)	missense	probably damaging	1.00
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'- AAAGGTCAAGTCTAGAGCGC -3'
(R):5'- TGATGAGCGCGATGTACGAG -3'

Sequencing Primer
(F):5'- AGCCCTGCTCGCCAAGTAG -3'
(R):5'- TCACCAGCGGATTCTTAGCG -3'

Posted On

2019-05-15