Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Fhip2b'

726745

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

Accession Numbers

Essential gene?

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

Stock #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70820736-70837275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70827808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 125 (H125R)

Ref Sequence

ENSEMBL: ENSMUSP00000022690 (fasta)

Gene Model

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

AlphaFold

Q80YR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022690
AA Change: H125R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: H125R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	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
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
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'- GGACACTGGTGAACTGAACTTC -3'
(R):5'- CTCAGTCAGGAAAGGGGTTTGG -3'

Sequencing Primer
(F):5'- CTTCCTTTTCTGTGAGGGATCCAG -3'
(R):5'- GAAGGGAAGATCTGTTTTACACACTG -3'

Posted On

2022-10-06