Mutagenetix > Incidental Mutation

Incidental Mutation 'R9562:Fhod1'

721093

Institutional Source

Beutler Lab

Gene Symbol

Fhod1

Ensembl Gene

ENSMUSG00000014778

Gene Name

formin homology 2 domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R9562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106055795-106074585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106074422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 22 (Y22N)

Ref Sequence

ENSEMBL: ENSMUSP00000014922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000073149]

AlphaFold

Q6P9Q4

Predicted Effect

unknown
Transcript: ENSMUST00000014922
AA Change: Y22N

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: Y22N

Domain	Start	End	E-Value	Type
PDB:3DAD\|B	1	339	N/A	PDB
Blast:Drf_GBD	85	216	1e-48	BLAST
SCOP:d1ee4a_	120	240	4e-4	SMART
Blast:FH2	231	318	6e-38	BLAST
low complexity region	342	357	N/A	INTRINSIC
Blast:FH2	386	483	2e-10	BLAST
low complexity region	514	532	N/A	INTRINSIC
low complexity region	573	643	N/A	INTRINSIC
FH2	648	1100	3.16e-121	SMART
low complexity region	1119	1130	N/A	INTRINSIC
Blast:FH2	1135	1179	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000073149

SMART Domains

Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	39	N/A	INTRINSIC
Pfam:Na_H_Exchanger	53	458	9.8e-89	PFAM
low complexity region	705	723	N/A	INTRINSIC
low complexity region	807	823	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,371,397 (GRCm39)	P1842Q	probably damaging	Het
Aco2	G	A	15: 81,773,635 (GRCm39)	R58Q	probably null	Het
Acvr1	T	C	2: 58,338,385 (GRCm39)	K446E	probably damaging	Het
Adam39	T	C	8: 41,277,755 (GRCm39)	Y49H	probably benign	Het
Afg3l2	C	T	18: 67,554,365 (GRCm39)	V446M	probably damaging	Het
Aire	A	G	10: 77,871,579 (GRCm39)	V397A	probably benign	Het
Ankdd1a	C	T	9: 65,411,452 (GRCm39)	A352T	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,909 (GRCm39)	M303T	probably benign	Het
Arfip2	T	C	7: 105,286,079 (GRCm39)	D270G	possibly damaging	Het
Arl4c	A	G	1: 88,629,134 (GRCm39)	C85R	probably damaging	Het
Arpp21	A	C	9: 111,956,354 (GRCm39)	V541G	possibly damaging	Het
Atp2a3	T	A	11: 72,873,578 (GRCm39)	M817K	probably damaging	Het
Bahcc1	C	T	11: 120,150,035 (GRCm39)	H106Y	possibly damaging	Het
Bcl9l	A	G	9: 44,412,076 (GRCm39)	S21G	possibly damaging	Het
C7	T	A	15: 5,086,579 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,272,725 (GRCm39)	D220G	possibly damaging	Het
Cacna1e	T	A	1: 154,283,486 (GRCm39)	D1960V	probably benign	Het
Casp4	A	T	9: 5,324,832 (GRCm39)	T215S	probably damaging	Het
Ccdc187	T	C	2: 26,183,698 (GRCm39)	S101G	possibly damaging	Het
Cdk12	A	G	11: 98,140,628 (GRCm39)	N1290D	unknown	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Col5a3	G	A	9: 20,714,429 (GRCm39)	A381V	unknown	Het
Cspg4b	T	C	13: 113,504,574 (GRCm39)	I1901T		Het
Dcpp2	A	G	17: 24,119,453 (GRCm39)	E89G	probably damaging	Het
Dhx57	G	T	17: 80,561,817 (GRCm39)	A899E	probably damaging	Het
Dnaaf1	T	C	8: 120,309,392 (GRCm39)	I160T	probably damaging	Het
Dnah1	C	A	14: 30,986,394 (GRCm39)	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,597,281 (GRCm39)	R3547S	possibly damaging	Het
Dnah3	A	G	7: 119,610,114 (GRCm39)	V1774A	probably benign	Het
Dop1a	G	A	9: 86,424,811 (GRCm39)	R2085Q	probably damaging	Het
Duox1	T	C	2: 122,151,203 (GRCm39)	Y293H	probably damaging	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Elp1	G	T	4: 56,772,521 (GRCm39)	P867T	probably benign	Het
Epas1	T	A	17: 87,112,667 (GRCm39)	D88E	probably damaging	Het
Epdr1	A	G	13: 19,778,821 (GRCm39)	F92L	possibly damaging	Het
Ercc6	T	C	14: 32,296,924 (GRCm39)	W1305R	probably damaging	Het
Etv6	A	G	6: 134,225,672 (GRCm39)	N212S	probably benign	Het
Fam20b	A	T	1: 156,530,010 (GRCm39)	Y141*	probably null	Het
Fancm	A	G	12: 65,168,494 (GRCm39)	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,734,722 (GRCm39)	N183K	probably damaging	Het
Fer1l6	A	G	15: 58,490,370 (GRCm39)	D976G	possibly damaging	Het
Fgb	T	C	3: 82,952,409 (GRCm39)		probably null	Het
Foxl3	C	A	5: 138,807,213 (GRCm39)	Q164K	probably benign	Het
Galm	C	T	17: 80,490,859 (GRCm39)	Q166*	probably null	Het
Gbe1	A	T	16: 70,198,664 (GRCm39)	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,293,180 (GRCm39)	Y369F	probably damaging	Het
Gdap2	T	C	3: 100,099,006 (GRCm39)	I366T	possibly damaging	Het
Gm14295	T	C	2: 176,499,162 (GRCm39)	V4A	probably benign	Het
Gm32742	T	A	9: 51,068,327 (GRCm39)	Y249F	probably benign	Het
Gm40460	A	T	7: 141,794,701 (GRCm39)	C39S	unknown	Het
Gm6370	T	A	5: 146,429,281 (GRCm39)	C120*	probably null	Het
Harbi1	T	A	2: 91,542,698 (GRCm39)	L53*	probably null	Het
Herc3	A	G	6: 58,835,999 (GRCm39)	N280S	probably null	Het
Hipk2	T	A	6: 38,724,390 (GRCm39)	R447W	probably damaging	Het
Hydin	A	G	8: 111,312,786 (GRCm39)	I4176V	probably benign	Het
Ifi211	A	T	1: 173,733,052 (GRCm39)	I203N	probably benign	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Kcng1	T	A	2: 168,104,797 (GRCm39)	I350F	probably damaging	Het
Kif21b	A	T	1: 136,077,090 (GRCm39)	I371F	probably damaging	Het
Klrc1	A	G	6: 129,655,746 (GRCm39)	F43S	probably damaging	Het
Krtap6-2	A	G	16: 89,216,722 (GRCm39)	S82P	unknown	Het
Lamb1	T	A	12: 31,322,492 (GRCm39)	M186K	probably damaging	Het
Lrig2	T	C	3: 104,375,924 (GRCm39)	K451E	possibly damaging	Het
Lrrc15	G	A	16: 30,093,016 (GRCm39)	L108F	probably damaging	Het
Mark3	A	G	12: 111,570,960 (GRCm39)	I87V	probably damaging	Het
Mlh1	T	C	9: 111,060,013 (GRCm39)	K622E		Het
Mrgprb2	G	A	7: 48,202,674 (GRCm39)	T17M	possibly damaging	Het
Msantd5f4	G	T	4: 73,557,190 (GRCm39)	V8F	probably damaging	Het
Mtmr4	C	T	11: 87,493,241 (GRCm39)	R225C	probably damaging	Het
Nfatc1	A	G	18: 80,678,916 (GRCm39)	L824P	probably damaging	Het
Nlrp4f	A	T	13: 65,347,053 (GRCm39)	D46E	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or10h5	G	T	17: 33,434,415 (GRCm39)	T301N	probably benign	Het
Or13n4	A	C	7: 106,423,020 (GRCm39)	F238V	probably damaging	Het
Or1l4	G	T	2: 37,091,575 (GRCm39)	M107I	probably benign	Het
Or2w25	T	A	11: 59,504,580 (GRCm39)	N263K	probably damaging	Het
Or6z7	G	C	7: 6,483,243 (GRCm39)	A304G	probably null	Het
Or7e173	T	A	9: 19,939,045 (GRCm39)	Y63F	probably damaging	Het
Or8b1	G	T	9: 38,400,092 (GRCm39)	A256S	possibly damaging	Het
Otulin	A	G	15: 27,608,812 (GRCm39)	Y244H	probably damaging	Het
Pabpc4	T	C	4: 123,180,653 (GRCm39)	I125T	probably damaging	Het
Parp14	A	G	16: 35,677,775 (GRCm39)	I731T	probably benign	Het
Parp8	T	C	13: 117,029,631 (GRCm39)	T531A	probably benign	Het
Parvg	G	T	15: 84,213,065 (GRCm39)	V49L	probably benign	Het
Pcdha12	T	C	18: 37,155,284 (GRCm39)	S668P	probably damaging	Het
Pcdhb9	A	C	18: 37,534,665 (GRCm39)	N220H	probably benign	Het
Pcdhga4	T	G	18: 37,819,527 (GRCm39)	S359A	probably benign	Het
Pi4k2b	T	A	5: 52,908,799 (GRCm39)	S208R	probably damaging	Het
Plxnb2	T	C	15: 89,050,136 (GRCm39)	Y487C	probably damaging	Het
Pm20d1	G	A	1: 131,730,501 (GRCm39)	V252I	probably damaging	Het
Pxdc1	T	A	13: 34,836,258 (GRCm39)	H54L	probably damaging	Het
Rag1	A	T	2: 101,473,327 (GRCm39)	V605E	probably damaging	Het
Rasgrf2	A	T	13: 92,034,469 (GRCm39)		probably null	Het
Relch	T	C	1: 105,591,876 (GRCm39)	V15A	probably damaging	Het
Rflnb	T	A	11: 75,912,951 (GRCm39)	T146S	probably damaging	Het
Rfx5	T	A	3: 94,866,639 (GRCm39)	L646Q	unknown	Het
Rnf43	A	G	11: 87,618,891 (GRCm39)	T81A	probably benign	Het
Ros1	T	C	10: 51,943,170 (GRCm39)	D2048G	probably damaging	Het
Rpl13a-ps1	T	A	19: 50,018,612 (GRCm39)	K188I	possibly damaging	Het
Rpl24	T	A	16: 55,790,509 (GRCm39)	S122T	probably benign	Het
Ryr2	G	A	13: 11,760,104 (GRCm39)	T1549M	probably damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sec23a	A	T	12: 59,048,817 (GRCm39)	F131I	possibly damaging	Het
Secisbp2	T	C	13: 51,837,320 (GRCm39)	I827T	probably damaging	Het
Serpinb6d	A	G	13: 33,854,756 (GRCm39)	R244G	probably benign	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Snx17	C	A	5: 31,355,088 (GRCm39)	Q368K	probably damaging	Het
Stac	T	A	9: 111,401,411 (GRCm39)	E345V	probably benign	Het
Stx4a	A	G	7: 127,445,375 (GRCm39)	N164S	possibly damaging	Het
Tasor	T	C	14: 27,201,766 (GRCm39)		probably null	Het
Tbcb	A	T	7: 29,930,549 (GRCm39)		probably null	Het
Tecpr2	T	C	12: 110,914,141 (GRCm39)	S1151P	possibly damaging	Het
Timm50	A	G	7: 28,007,069 (GRCm39)	F202S	possibly damaging	Het
Tle2	A	G	10: 81,417,567 (GRCm39)	D244G	probably benign	Het
Tlr4	G	A	4: 66,759,522 (GRCm39)	V772I	possibly damaging	Het
Tmem214	G	A	5: 31,027,043 (GRCm39)	W11*	probably null	Het
Tmem241	A	T	18: 12,176,356 (GRCm39)	L227*	probably null	Het
Top2b	A	C	14: 16,365,718 (GRCm38)	T14P	probably benign	Het
Trim44	T	C	2: 102,187,827 (GRCm39)	T309A	probably benign	Het
Trps1	A	C	15: 50,524,657 (GRCm39)	I1091S	probably damaging	Het
Tspan2	C	A	3: 102,672,583 (GRCm39)	T200K	probably damaging	Het
Tuba8	A	G	6: 121,200,063 (GRCm39)	N249S	probably benign	Het
Vmn1r189	A	G	13: 22,286,426 (GRCm39)	L137P	probably damaging	Het
Vmn2r29	A	T	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Vmn2r52	A	C	7: 9,893,476 (GRCm39)	D554E	probably benign	Het
Zc3h4	C	G	7: 16,168,891 (GRCm39)	P1075R	unknown	Het
Zfp599	A	G	9: 22,160,999 (GRCm39)	S389P	probably damaging	Het
Zfp777	A	T	6: 48,021,580 (GRCm39)	V14D	possibly damaging	Het
Zswim8	C	T	14: 20,762,150 (GRCm39)	Q262*	probably null	Het

Other mutations in Fhod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Fhod1	APN	8	106,058,734 (GRCm39)	missense	possibly damaging	0.66
IGL01149:Fhod1	APN	8	106,074,439 (GRCm39)	unclassified	probably benign
IGL01325:Fhod1	APN	8	106,058,281 (GRCm39)	missense	probably benign	0.33
IGL01470:Fhod1	APN	8	106,056,281 (GRCm39)	missense	probably damaging	1.00
IGL01521:Fhod1	APN	8	106,057,055 (GRCm39)	missense	probably benign	0.17
IGL01861:Fhod1	APN	8	106,057,808 (GRCm39)	missense	probably damaging	1.00
IGL02864:Fhod1	APN	8	106,063,796 (GRCm39)	unclassified	probably benign
IGL02951:Fhod1	APN	8	106,057,862 (GRCm39)	missense	probably damaging	1.00
reactive	UTSW	8	106,063,066 (GRCm39)	unclassified	probably benign
treason	UTSW	8	106,063,982 (GRCm39)	unclassified	probably benign
R0016:Fhod1	UTSW	8	106,058,287 (GRCm39)	missense	possibly damaging	0.91
R0016:Fhod1	UTSW	8	106,058,287 (GRCm39)	missense	possibly damaging	0.91
R0071:Fhod1	UTSW	8	106,063,857 (GRCm39)	splice site	probably null
R0071:Fhod1	UTSW	8	106,063,857 (GRCm39)	splice site	probably null
R0498:Fhod1	UTSW	8	106,056,488 (GRCm39)	missense	probably damaging	1.00
R1234:Fhod1	UTSW	8	106,063,795 (GRCm39)	unclassified	probably benign
R1465:Fhod1	UTSW	8	106,065,546 (GRCm39)	unclassified	probably benign
R1465:Fhod1	UTSW	8	106,065,546 (GRCm39)	unclassified	probably benign
R1485:Fhod1	UTSW	8	106,063,430 (GRCm39)	critical splice acceptor site	probably null
R1585:Fhod1	UTSW	8	106,063,957 (GRCm39)	unclassified	probably benign
R1615:Fhod1	UTSW	8	106,074,463 (GRCm39)	unclassified	probably benign
R1778:Fhod1	UTSW	8	106,056,309 (GRCm39)	missense	probably damaging	1.00
R1781:Fhod1	UTSW	8	106,074,421 (GRCm39)	unclassified	probably benign
R2291:Fhod1	UTSW	8	106,063,596 (GRCm39)	unclassified	probably benign
R2864:Fhod1	UTSW	8	106,059,543 (GRCm39)	missense	probably null	0.97
R2865:Fhod1	UTSW	8	106,059,543 (GRCm39)	missense	probably null	0.97
R3775:Fhod1	UTSW	8	106,058,270 (GRCm39)	unclassified	probably benign
R4107:Fhod1	UTSW	8	106,064,670 (GRCm39)	unclassified	probably benign
R4422:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4423:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4424:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4425:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4641:Fhod1	UTSW	8	106,056,224 (GRCm39)	missense	probably damaging	1.00
R4724:Fhod1	UTSW	8	106,064,493 (GRCm39)	unclassified	probably benign
R4757:Fhod1	UTSW	8	106,074,443 (GRCm39)	unclassified	probably benign
R5004:Fhod1	UTSW	8	106,063,577 (GRCm39)	unclassified	probably benign
R5082:Fhod1	UTSW	8	106,057,145 (GRCm39)	missense	probably damaging	1.00
R6033:Fhod1	UTSW	8	106,063,066 (GRCm39)	unclassified	probably benign
R6033:Fhod1	UTSW	8	106,063,066 (GRCm39)	unclassified	probably benign
R6298:Fhod1	UTSW	8	106,063,780 (GRCm39)	unclassified	probably benign
R6320:Fhod1	UTSW	8	106,063,982 (GRCm39)	unclassified	probably benign
R6362:Fhod1	UTSW	8	106,058,273 (GRCm39)	critical splice donor site	probably null
R6449:Fhod1	UTSW	8	106,056,869 (GRCm39)	missense	probably damaging	1.00
R6736:Fhod1	UTSW	8	106,064,522 (GRCm39)	unclassified	probably benign
R6816:Fhod1	UTSW	8	106,057,176 (GRCm39)	missense	probably benign	0.10
R6955:Fhod1	UTSW	8	106,059,639 (GRCm39)	missense	probably benign	0.00
R7073:Fhod1	UTSW	8	106,063,771 (GRCm39)	missense	unknown
R7567:Fhod1	UTSW	8	106,074,469 (GRCm39)	missense	unknown
R7697:Fhod1	UTSW	8	106,074,563 (GRCm39)	unclassified	probably benign
R7789:Fhod1	UTSW	8	106,056,740 (GRCm39)	missense	probably damaging	1.00
R7894:Fhod1	UTSW	8	106,057,789 (GRCm39)	missense	probably damaging	1.00
R8105:Fhod1	UTSW	8	106,063,847 (GRCm39)	missense	unknown
R8835:Fhod1	UTSW	8	106,065,484 (GRCm39)	critical splice donor site	probably null
R9200:Fhod1	UTSW	8	106,058,072 (GRCm39)	missense	probably benign	0.03
R9266:Fhod1	UTSW	8	106,065,531 (GRCm39)	missense	unknown
R9426:Fhod1	UTSW	8	106,056,490 (GRCm39)	missense	probably benign	0.31
R9429:Fhod1	UTSW	8	106,057,139 (GRCm39)	missense	probably damaging	1.00
R9507:Fhod1	UTSW	8	106,064,694 (GRCm39)	nonsense	probably null
R9566:Fhod1	UTSW	8	106,064,516 (GRCm39)	missense	unknown
R9736:Fhod1	UTSW	8	106,059,597 (GRCm39)	missense	probably damaging	1.00
R9739:Fhod1	UTSW	8	106,064,378 (GRCm39)	missense	unknown
R9746:Fhod1	UTSW	8	106,064,048 (GRCm39)	missense	unknown
R9748:Fhod1	UTSW	8	106,058,323 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCACTGTCTGTCCACC -3'
(R):5'- GATCACCAGCTCTCTGAGTG -3'

Sequencing Primer
(F):5'- GTCTGTCCACCGCCCAC -3'
(R):5'- CAGCTCTCTGAGTGGCTGG -3'

Posted On

2022-08-09