Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03162:Fhip2b'

411481

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 #

IGL03162

Quality Score

Status

Chromosome

Chromosomal Location

70820736-70837275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70824994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 447 (D447E)

Ref Sequence

ENSEMBL: ENSMUSP00000022690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022690] [ENSMUST00000089049] [ENSMUST00000228554]

AlphaFold

Q80YR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022690
AA Change: D447E

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

SMART Domains

Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: D447E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089049

SMART Domains

Protein: ENSMUSP00000086450
Gene: ENSMUSG00000045211

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:NUDIX	44	165	2.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228554

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Acsl3	T	C	1: 78,676,887 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,271,620 (GRCm39)	T596A	probably benign	Het
Adh6a	T	A	3: 138,034,880 (GRCm39)	Y336*	probably null	Het
Ak3	A	T	19: 29,000,236 (GRCm39)	V225D	possibly damaging	Het
Aldh1a7	T	A	19: 20,685,645 (GRCm39)	I302F	probably benign	Het
Amdhd1	T	C	10: 93,367,337 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,491,301 (GRCm39)		probably null	Het
Caap1	A	T	4: 94,389,261 (GRCm39)		probably benign	Het
Cdhr4	G	A	9: 107,875,210 (GRCm39)	G70D	probably damaging	Het
Celsr3	T	C	9: 108,719,757 (GRCm39)	F2445S	probably damaging	Het
Cenpc1	A	G	5: 86,185,764 (GRCm39)	V249A	possibly damaging	Het
Clca3a2	C	A	3: 144,512,177 (GRCm39)	V80F	probably damaging	Het
Col6a1	T	A	10: 76,553,885 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,220,117 (GRCm39)	L198Q	probably damaging	Het
Cyp2d40	A	G	15: 82,644,243 (GRCm39)	L294P	unknown	Het
E2f6	T	A	12: 16,868,909 (GRCm39)	D77E	probably benign	Het
Elf5	T	A	2: 103,260,751 (GRCm39)	H38Q	possibly damaging	Het
Entrep1	T	G	19: 23,965,824 (GRCm39)	H225P	probably damaging	Het
Fcrl6	A	G	1: 172,425,820 (GRCm39)	V227A	probably damaging	Het
Gabarapl2	T	A	8: 112,669,168 (GRCm39)	V42D	probably benign	Het
Gm3543	A	G	14: 41,802,022 (GRCm39)	I154T	possibly damaging	Het
Gpr150	T	A	13: 76,204,950 (GRCm39)		probably benign	Het
Gstp3	A	G	19: 4,109,255 (GRCm39)		probably benign	Het
Gzmm	C	T	10: 79,528,790 (GRCm39)	T64I	probably damaging	Het
Hs3st1	T	A	5: 39,771,792 (GRCm39)	K284*	probably null	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,131,055 (GRCm39)	I94N	probably damaging	Het
Kif26b	A	G	1: 178,744,497 (GRCm39)	N1531S	probably benign	Het
Kif27	T	C	13: 58,459,021 (GRCm39)	S937G	probably benign	Het
Klhl2	A	G	8: 65,207,426 (GRCm39)	V311A	probably damaging	Het
Klrb1b	T	A	6: 128,795,892 (GRCm39)	Q109L	probably null	Het
Lrig2	A	G	3: 104,371,613 (GRCm39)	F697L	probably damaging	Het
Lrrc66	T	C	5: 73,764,725 (GRCm39)	R773G	probably benign	Het
Mrgpra2b	C	T	7: 47,113,815 (GRCm39)	V306I	probably benign	Het
Nipbl	T	C	15: 8,368,463 (GRCm39)	H1127R	probably benign	Het
Nr3c2	A	T	8: 77,944,213 (GRCm39)	D816V	probably damaging	Het
Ntmt2	T	A	1: 163,530,783 (GRCm39)	I219L	probably damaging	Het
Or10a3	T	C	7: 108,480,811 (GRCm39)	M1V	probably null	Het
Or5w19	A	C	2: 87,698,484 (GRCm39)	M50L	probably benign	Het
Pdxdc1	A	G	16: 13,675,281 (GRCm39)	L350P	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pnpla7	T	C	2: 24,905,301 (GRCm39)		probably benign	Het
Ppan	T	G	9: 20,802,608 (GRCm39)	L283R	probably damaging	Het
Rbfox3	A	C	11: 118,387,257 (GRCm39)	S286A	probably benign	Het
Rbl2	A	G	8: 91,812,330 (GRCm39)	T273A	probably benign	Het
Recql4	G	T	15: 76,590,296 (GRCm39)		probably null	Het
Slc22a26	T	A	19: 7,779,466 (GRCm39)	M117L	probably benign	Het
Sult2a2	T	A	7: 13,468,822 (GRCm39)	I96K	probably damaging	Het
Tcf15	G	A	2: 151,990,626 (GRCm39)	R175H	probably benign	Het
Uggt1	A	T	1: 36,247,037 (GRCm39)	V320D	probably damaging	Het
Vmn2r102	A	G	17: 19,914,286 (GRCm39)	N617S	probably damaging	Het
Vpreb3	A	G	10: 75,785,133 (GRCm39)	Y77C	probably damaging	Het
Zbbx	A	T	3: 74,978,930 (GRCm39)		probably benign	Het
Zfand6	A	T	7: 84,283,185 (GRCm39)	S57R	probably benign	Het
Zmym2	A	G	14: 57,151,500 (GRCm39)	I462V	probably benign	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
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

2016-08-02