Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02306:Fhip2b'

287597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhip2b

Ensembl Gene

ENSMUSG00000022095

Gene Name

FHF complex subunit HOOK interacting protein 2B

Synonyms

G430067P06Rik, Fam160b2, Rai16

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

70820736-70837275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70826437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 217 (D217G)

Ref Sequence

ENSEMBL: ENSMUSP00000022690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022690]

AlphaFold

Q80YR2

Predicted Effect

probably benign
Transcript: ENSMUST00000022690
AA Change: D217G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: D217G

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	79	477	7.7e-112	PFAM
low complexity region	516	528	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,952,044 (GRCm39)	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,095,801 (GRCm39)	W846*	probably null	Het
Adam34	G	A	8: 44,103,522 (GRCm39)	R708C	probably benign	Het
Adam6a	T	A	12: 113,509,343 (GRCm39)	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,612,489 (GRCm39)	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,095,302 (GRCm39)	F267Y	probably benign	Het
Car7	A	G	8: 105,275,630 (GRCm39)	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,379,471 (GRCm39)	M509K	probably benign	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cmya5	C	T	13: 93,234,527 (GRCm39)	G187D	probably damaging	Het
Crot	A	T	5: 9,018,701 (GRCm39)	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,214,891 (GRCm39)	T4I	probably benign	Het
Cyp2a12	A	G	7: 26,732,008 (GRCm39)	K250E	probably damaging	Het
Deaf1	T	C	7: 140,904,094 (GRCm39)		probably null	Het
Dse	C	T	10: 34,036,130 (GRCm39)	E249K	probably damaging	Het
E4f1	G	T	17: 24,665,903 (GRCm39)	R88S	probably damaging	Het
Fam83a	A	C	15: 57,858,704 (GRCm39)	D248A	probably damaging	Het
Hadhb	T	A	5: 30,371,747 (GRCm39)	L66Q	probably null	Het
Kalrn	T	C	16: 34,130,897 (GRCm39)	E440G	probably damaging	Het
Kif3b	A	G	2: 153,162,572 (GRCm39)	Y527C	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,869,092 (GRCm39)	V263E	probably damaging	Het
Mms19	A	G	19: 41,954,703 (GRCm39)	L72P	probably damaging	Het
Mylpf	T	A	7: 126,812,330 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Nedd4l	T	G	18: 65,306,025 (GRCm39)	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,782,688 (GRCm39)	D240E	probably damaging	Het
Obscn	A	T	11: 58,890,497 (GRCm39)	I7345N	unknown	Het
Or4c102	A	T	2: 88,422,950 (GRCm39)	K267N	probably benign	Het
Ostn	A	T	16: 27,165,691 (GRCm39)	S127C	probably damaging	Het
Patl1	A	G	19: 11,920,250 (GRCm39)	K735E	possibly damaging	Het
Pde12	A	G	14: 26,389,533 (GRCm39)	L392P	possibly damaging	Het
Plxdc2	A	G	2: 16,665,585 (GRCm39)	I213V	probably benign	Het
Plxna4	T	A	6: 32,183,059 (GRCm39)	Y948F	probably benign	Het
Prlhr	A	T	19: 60,456,353 (GRCm39)	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,760 (GRCm39)	P412S	probably benign	Het
Prmt9	A	G	8: 78,287,447 (GRCm39)	K196R	probably benign	Het
Rundc3a	T	A	11: 102,291,764 (GRCm39)	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,664,459 (GRCm39)	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,677,744 (GRCm39)		probably null	Het
Scart1	T	C	7: 139,803,269 (GRCm39)	C278R	probably damaging	Het
Sfxn2	T	A	19: 46,578,987 (GRCm39)	M240K	probably damaging	Het
Skor2	T	C	18: 76,950,374 (GRCm39)	S901P	probably benign	Het
Smad4	T	C	18: 73,795,940 (GRCm39)		probably null	Het
Snrnp40	T	G	4: 130,258,893 (GRCm39)	C100W	probably benign	Het
Spink5	T	A	18: 44,097,511 (GRCm39)	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,703,914 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,219,365 (GRCm39)	L231F	probably damaging	Het

Other mutations in Fhip2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Fhip2b	APN	14	70,822,813 (GRCm39)	missense	probably damaging	1.00
IGL01862:Fhip2b	APN	14	70,825,130 (GRCm39)	missense	probably benign	0.03
IGL02534:Fhip2b	APN	14	70,823,630 (GRCm39)	missense	probably benign
IGL02534:Fhip2b	APN	14	70,823,128 (GRCm39)	missense	probably damaging	0.98
IGL03071:Fhip2b	APN	14	70,823,649 (GRCm39)	missense	probably damaging	1.00
IGL03162:Fhip2b	APN	14	70,824,994 (GRCm39)	missense	probably damaging	1.00
IGL03166:Fhip2b	APN	14	70,827,616 (GRCm39)	missense	probably damaging	1.00
IGL03134:Fhip2b	UTSW	14	70,826,149 (GRCm39)	missense	possibly damaging	0.66
R0043:Fhip2b	UTSW	14	70,826,101 (GRCm39)	missense	probably benign	0.45
R0628:Fhip2b	UTSW	14	70,825,161 (GRCm39)	missense	possibly damaging	0.48
R0691:Fhip2b	UTSW	14	70,825,727 (GRCm39)	missense	probably damaging	1.00
R1680:Fhip2b	UTSW	14	70,824,291 (GRCm39)	missense	probably damaging	1.00
R1727:Fhip2b	UTSW	14	70,831,438 (GRCm39)	missense	probably damaging	0.98
R2059:Fhip2b	UTSW	14	70,822,489 (GRCm39)	missense	possibly damaging	0.54
R2362:Fhip2b	UTSW	14	70,823,805 (GRCm39)	missense	probably benign	0.18
R3423:Fhip2b	UTSW	14	70,824,025 (GRCm39)	missense	probably damaging	1.00
R4233:Fhip2b	UTSW	14	70,824,318 (GRCm39)	missense	probably damaging	0.99
R4770:Fhip2b	UTSW	14	70,825,727 (GRCm39)	missense	probably damaging	1.00
R5903:Fhip2b	UTSW	14	70,829,121 (GRCm39)	missense	probably damaging	1.00
R6217:Fhip2b	UTSW	14	70,829,198 (GRCm39)	splice site	probably null
R6665:Fhip2b	UTSW	14	70,823,078 (GRCm39)	missense	probably damaging	1.00
R7424:Fhip2b	UTSW	14	70,831,447 (GRCm39)	missense	probably damaging	1.00
R9176:Fhip2b	UTSW	14	70,826,540 (GRCm39)	missense	probably benign	0.40
R9393:Fhip2b	UTSW	14	70,831,463 (GRCm39)	nonsense	probably null
R9486:Fhip2b	UTSW	14	70,826,479 (GRCm39)	missense	probably benign	0.00
R9529:Fhip2b	UTSW	14	70,822,579 (GRCm39)	missense	probably damaging	1.00
R9610:Fhip2b	UTSW	14	70,824,258 (GRCm39)	missense	probably benign	0.44
R9611:Fhip2b	UTSW	14	70,824,258 (GRCm39)	missense	probably benign	0.44
R9646:Fhip2b	UTSW	14	70,827,808 (GRCm39)	missense	probably damaging	0.99
R9699:Fhip2b	UTSW	14	70,825,179 (GRCm39)	missense	possibly damaging	0.90
R9760:Fhip2b	UTSW	14	70,827,621 (GRCm39)	missense	possibly damaging	0.94
Z1176:Fhip2b	UTSW	14	70,823,644 (GRCm39)	missense	not run
Z1177:Fhip2b	UTSW	14	70,823,644 (GRCm39)	missense	not run

Posted On

2015-04-16