Mutagenetix > Incidental Mutation

Incidental Mutation 'R3011:Fhip2a'

257522

Institutional Source

Beutler Lab

Gene Symbol

Fhip2a

Ensembl Gene

ENSMUSG00000033478

Gene Name

FHF complex subunit HOOK interacting protein 2A

Synonyms

Fam160b1

MMRRC Submission

040533-MU

Accession Numbers

Essential gene?

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

Stock #

R3011 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

57349355-57378026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57373720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 660 (L660Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

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

AlphaFold

Q8CDM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036407
AA Change: L660Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: L660Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	C	16: 38,422,269 (GRCm39)	C1266G	possibly damaging	Het
Brme1	C	A	8: 84,893,539 (GRCm39)	Y235*	probably null	Het
Cers5	A	G	15: 99,670,598 (GRCm39)		probably benign	Het
Clasp2	C	T	9: 113,730,581 (GRCm39)	T905M	probably damaging	Het
Clec16a	A	G	16: 10,428,975 (GRCm39)	N469S	probably benign	Het
Commd3	T	A	2: 18,679,499 (GRCm39)	V128D	probably damaging	Het
Cped1	A	G	6: 22,088,695 (GRCm39)	T253A	probably damaging	Het
Dnajc5b	A	T	3: 19,600,966 (GRCm39)	Y21F	probably damaging	Het
Gm14403	A	G	2: 177,200,786 (GRCm39)	D244G	probably benign	Het
Gm5414	T	C	15: 101,534,047 (GRCm39)	D312G	probably damaging	Het
Ifi204	T	C	1: 173,579,217 (GRCm39)	S543G	probably benign	Het
Itga11	T	A	9: 62,604,262 (GRCm39)	I50N	probably damaging	Het
Lct	C	T	1: 128,229,109 (GRCm39)	V795I	possibly damaging	Het
Lrrc37	T	A	11: 103,503,929 (GRCm39)	T504S	possibly damaging	Het
Map2	A	G	1: 66,453,771 (GRCm39)	D887G	probably damaging	Het
Mgat4e	T	A	1: 134,469,846 (GRCm39)	D66V	possibly damaging	Het
Nqo1	C	T	8: 108,115,743 (GRCm39)	R178H	probably benign	Het
Or13e8	G	T	4: 43,696,624 (GRCm39)	A183E	probably damaging	Het
Or5h22	A	G	16: 58,895,350 (GRCm39)	V31A	probably benign	Het
Otof	G	A	5: 30,540,184 (GRCm39)	A999V	probably damaging	Het
Phf20	A	G	2: 156,129,946 (GRCm39)	D506G	probably benign	Het
Pth2r	C	T	1: 65,376,147 (GRCm39)	H97Y	probably benign	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Srgap2	T	A	1: 131,238,329 (GRCm39)	Q520L	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tlr4	A	T	4: 66,757,491 (GRCm39)	K95*	probably null	Het
Tmem59l	A	T	8: 70,938,887 (GRCm39)	C96S	probably damaging	Het
Tmtc3	G	T	10: 100,283,444 (GRCm39)	P704T	possibly damaging	Het
Upp2	T	C	2: 58,680,107 (GRCm39)	V293A	probably damaging	Het
Vps72	A	G	3: 95,026,585 (GRCm39)	K177E	probably damaging	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
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
R9214:Fhip2a	UTSW	19	57,373,756 (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'- GTCCTCTGTGGTTCTCAGTCAG -3'
(R):5'- TTACACTCGATCCACACGGG -3'

Sequencing Primer
(F):5'- TCAGTCAGAGCTGTACCTGAC -3'
(R):5'- TCGATCCACACGGGGAGATG -3'

Posted On

2015-01-11