Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Fhip2b'

456466

Institutional Source

Beutler Lab

Gene Symbol

Fhip2b

Ensembl Gene

ENSMUSG00000022095

Gene Name

FHF complex subunit HOOK interacting protein 2B

Synonyms

G430067P06Rik, Fam160b2, Rai16

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

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

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70820736-70837275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70829121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 64 (V64E)

Ref Sequence

ENSEMBL: ENSMUSP00000022690 (fasta)

Gene Model

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

AlphaFold

Q80YR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022690
AA Change: V64E

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

SMART Domains

Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: V64E

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Clec4d	A	G	6: 123,244,020 (GRCm39)	H43R	probably damaging	Het
Cntn3	T	A	6: 102,219,094 (GRCm39)	M509L	probably benign	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,215,386 (GRCm39)	V161A	probably damaging	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,235,612 (GRCm39)	V48D	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Oas1h	T	C	5: 121,009,040 (GRCm39)	V250A	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	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
IGL02306:Fhip2b	APN	14	70,826,437 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATTAGTCACGGGAATTGTTC -3'
(R):5'- AAACTTCCATTTCCCGGTGG -3'

Sequencing Primer
(F):5'- CATTAGATGGAGGAGCACTGG -3'
(R):5'- ATTTCCCGGTGGCACTCAG -3'

Posted On

2017-02-15