Mutagenetix > Incidental Mutation

Incidental Mutation 'R9214:Fhip2a'

699101

Institutional Source

Beutler Lab

Gene Symbol

Fhip2a

Ensembl Gene

ENSMUSG00000033478

Gene Name

FHF complex subunit HOOK interacting protein 2A

Synonyms

Fam160b1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R9214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57349355-57378026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57373756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 672 (H672R)

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036407]

AlphaFold

Q8CDM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036407
AA Change: H672R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: H672R

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	78	495	1.1e-144	PFAM
low complexity region	713	724	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,890,653 (GRCm39)	D352G	probably benign	Het
Abi1	A	T	2: 22,831,989 (GRCm39)	Y447*	probably null	Het
Acot1	A	G	12: 84,064,189 (GRCm39)	Y124C		Het
Adgrf4	T	C	17: 42,978,704 (GRCm39)	N213S	possibly damaging	Het
Alg9	T	A	9: 50,717,545 (GRCm39)	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,109,024 (GRCm39)	T25A	probably benign	Het
Bpifa1	C	A	2: 153,985,789 (GRCm39)	P35T	unknown	Het
Btbd16	T	C	7: 130,381,437 (GRCm39)		probably null	Het
Ccdc187	G	T	2: 26,183,409 (GRCm39)	T197K	probably benign	Het
Cd209b	A	G	8: 3,968,771 (GRCm39)	V295A	probably benign	Het
Cdcp3	C	T	7: 130,824,481 (GRCm39)	S192L	possibly damaging	Het
Clrn2	G	T	5: 45,617,518 (GRCm39)	A130S	probably benign	Het
Cnrip1	A	G	11: 17,004,740 (GRCm39)	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,523,273 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,286,119 (GRCm39)	S278P	probably benign	Het
Dnah12	A	C	14: 26,445,060 (GRCm39)	E654D	probably benign	Het
Efcab7	T	C	4: 99,735,437 (GRCm39)	S154P	probably damaging	Het
Emcn	T	C	3: 137,047,029 (GRCm39)	F10S	probably damaging	Het
Flg2	G	T	3: 93,110,884 (GRCm39)	A971S	unknown	Het
Gli2	A	T	1: 118,795,791 (GRCm39)	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,460,359 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,822 (GRCm39)	L846P	probably damaging	Het
Golga7b	A	T	19: 42,255,440 (GRCm39)	I106F	probably damaging	Het
Hltf	T	C	3: 20,140,280 (GRCm39)	S460P	probably benign	Het
Hyal5	A	G	6: 24,876,403 (GRCm39)	Y92C	probably damaging	Het
Kif19b	G	A	5: 140,468,257 (GRCm39)	R649Q	probably benign	Het
Mapk1	T	A	16: 16,853,549 (GRCm39)	C84S	probably benign	Het
Marchf10	A	G	11: 105,281,100 (GRCm39)	V395A	probably benign	Het
Meltf	A	G	16: 31,697,763 (GRCm39)	T7A	probably benign	Het
Mfhas1	T	A	8: 36,057,730 (GRCm39)	V735D	probably damaging	Het
Mia2	G	T	12: 59,223,150 (GRCm39)	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,327 (GRCm39)	L25P	probably benign	Het
Mprip	C	T	11: 59,650,901 (GRCm39)	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,355,126 (GRCm39)	S233T	possibly damaging	Het
Muc21	T	A	17: 35,931,838 (GRCm39)	S783C	unknown	Het
Nckap5	A	C	1: 125,942,376 (GRCm39)	V1576G	probably benign	Het
Ntng1	T	C	3: 109,841,921 (GRCm39)	Y284C	probably damaging	Het
Numa1	T	A	7: 101,650,139 (GRCm39)	V1290D	probably damaging	Het
Or52l1	T	G	7: 104,829,587 (GRCm39)	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,950,264 (GRCm39)	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,610,107 (GRCm39)	K84E	possibly damaging	Het
Pramel16	T	C	4: 143,675,750 (GRCm39)	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,767 (GRCm39)	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,275,786 (GRCm39)	F33S	probably damaging	Het
Rgs11	A	G	17: 26,427,260 (GRCm39)	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,622,111 (GRCm39)	H277L	probably benign	Het
Ryr1	A	G	7: 28,785,187 (GRCm39)	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,350,641 (GRCm39)	A123T	probably damaging	Het
Smoc2	A	G	17: 14,556,839 (GRCm39)	Y96C	probably damaging	Het
Sqle	A	G	15: 59,194,765 (GRCm39)	E267G	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,067,210 (GRCm39)	N133K	probably benign	Het
Taf7l2	T	C	10: 115,948,903 (GRCm39)	T208A	probably benign	Het
Thoc5	A	T	11: 4,864,303 (GRCm39)	Q320L	probably benign	Het
Tmc4	G	C	7: 3,670,497 (GRCm39)	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,801,031 (GRCm39)	T173A	probably damaging	Het
Tpp2	A	C	1: 44,031,514 (GRCm39)	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,772,941 (GRCm39)	V206A	probably benign	Het
Ulk1	A	T	5: 110,936,663 (GRCm39)	V758E	possibly damaging	Het
Vdr	T	A	15: 97,767,600 (GRCm39)	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,892 (GRCm39)	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,560,991 (GRCm39)	D527G	unknown	Het
Zfp512	C	T	5: 31,637,434 (GRCm39)	R508W	probably damaging	Het
Zfp606	A	G	7: 12,215,026 (GRCm39)	T85A	unknown	Het

Other mutations in Fhip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Fhip2a	APN	19	57,369,777 (GRCm39)	missense	probably benign	0.00
IGL02642:Fhip2a	APN	19	57,373,782 (GRCm39)	missense	possibly damaging	0.55
IGL03152:Fhip2a	APN	19	57,367,264 (GRCm39)	missense	probably damaging	0.99
fredericksburg	UTSW	19	57,372,555 (GRCm39)	nonsense	probably null
williamsburg	UTSW	19	57,372,697 (GRCm39)	critical splice donor site	probably null
R0001:Fhip2a	UTSW	19	57,370,188 (GRCm39)	missense	probably benign	0.01
R0123:Fhip2a	UTSW	19	57,369,839 (GRCm39)	missense	probably benign	0.00
R0368:Fhip2a	UTSW	19	57,357,010 (GRCm39)	missense	possibly damaging	0.91
R0446:Fhip2a	UTSW	19	57,369,839 (GRCm39)	missense	probably benign	0.00
R0508:Fhip2a	UTSW	19	57,367,174 (GRCm39)	missense	probably benign	0.04
R0926:Fhip2a	UTSW	19	57,369,522 (GRCm39)	missense	probably damaging	1.00
R1122:Fhip2a	UTSW	19	57,370,733 (GRCm39)	missense	probably benign	0.00
R1344:Fhip2a	UTSW	19	57,359,594 (GRCm39)	missense	possibly damaging	0.72
R1398:Fhip2a	UTSW	19	57,361,358 (GRCm39)	splice site	probably benign
R1418:Fhip2a	UTSW	19	57,359,594 (GRCm39)	missense	possibly damaging	0.72
R1506:Fhip2a	UTSW	19	57,357,007 (GRCm39)	missense	probably benign	0.30
R1530:Fhip2a	UTSW	19	57,374,737 (GRCm39)	missense	probably damaging	0.99
R1695:Fhip2a	UTSW	19	57,367,603 (GRCm39)	missense	probably damaging	1.00
R1868:Fhip2a	UTSW	19	57,374,737 (GRCm39)	missense	possibly damaging	0.75
R1974:Fhip2a	UTSW	19	57,373,809 (GRCm39)	missense	probably damaging	0.99
R2004:Fhip2a	UTSW	19	57,370,324 (GRCm39)	missense	probably benign
R2893:Fhip2a	UTSW	19	57,372,601 (GRCm39)	missense	probably benign	0.01
R3011:Fhip2a	UTSW	19	57,373,720 (GRCm39)	missense	probably damaging	1.00
R3963:Fhip2a	UTSW	19	57,361,442 (GRCm39)	missense	possibly damaging	0.77
R4416:Fhip2a	UTSW	19	57,373,829 (GRCm39)	splice site	probably null
R4613:Fhip2a	UTSW	19	57,359,619 (GRCm39)	missense	probably damaging	0.99
R4735:Fhip2a	UTSW	19	57,359,661 (GRCm39)	missense	probably damaging	1.00
R4893:Fhip2a	UTSW	19	57,370,188 (GRCm39)	missense	probably benign	0.01
R4937:Fhip2a	UTSW	19	57,367,069 (GRCm39)	missense	probably benign
R5049:Fhip2a	UTSW	19	57,374,737 (GRCm39)	missense	possibly damaging	0.75
R5050:Fhip2a	UTSW	19	57,371,602 (GRCm39)	missense	probably damaging	1.00
R5080:Fhip2a	UTSW	19	57,361,713 (GRCm39)	missense	probably damaging	1.00
R5176:Fhip2a	UTSW	19	57,359,613 (GRCm39)	missense	probably damaging	0.98
R5317:Fhip2a	UTSW	19	57,370,141 (GRCm39)	splice site	probably null
R5347:Fhip2a	UTSW	19	57,367,051 (GRCm39)	missense	probably benign
R5497:Fhip2a	UTSW	19	57,369,583 (GRCm39)	splice site	probably null
R5969:Fhip2a	UTSW	19	57,372,555 (GRCm39)	nonsense	probably null
R6418:Fhip2a	UTSW	19	57,370,166 (GRCm39)	missense	probably benign	0.18
R6426:Fhip2a	UTSW	19	57,371,610 (GRCm39)	missense	probably damaging	1.00
R6765:Fhip2a	UTSW	19	57,367,177 (GRCm39)	missense	probably benign
R7472:Fhip2a	UTSW	19	57,357,017 (GRCm39)	missense	probably damaging	1.00
R7583:Fhip2a	UTSW	19	57,367,034 (GRCm39)	missense	probably benign	0.01
R7672:Fhip2a	UTSW	19	57,373,750 (GRCm39)	missense	possibly damaging	0.95
R8159:Fhip2a	UTSW	19	57,372,697 (GRCm39)	critical splice donor site	probably null
R8510:Fhip2a	UTSW	19	57,370,752 (GRCm39)	missense	probably benign	0.16
R9060:Fhip2a	UTSW	19	57,361,450 (GRCm39)	missense	probably damaging	0.99
R9233:Fhip2a	UTSW	19	57,369,098 (GRCm39)	missense	probably damaging	1.00
R9689:Fhip2a	UTSW	19	57,369,710 (GRCm39)	missense	probably benign	0.01
X0023:Fhip2a	UTSW	19	57,372,579 (GRCm39)	nonsense	probably null
X0062:Fhip2a	UTSW	19	57,373,689 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACCTGACAGGATGGTGG -3'
(R):5'- GTAGCAATTGCCTACAAGCAG -3'

Sequencing Primer
(F):5'- CTGTCTCTGTGGGTGCCC -3'
(R):5'- GCAGCAGCTATGTCTTTCTTTACAC -3'

Posted On

2022-02-07