Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Fhip1b'

42037

Institutional Source

Beutler Lab

Gene Symbol

Fhip1b

Ensembl Gene

ENSMUSG00000044465

Gene Name

FHF complex subunit HOOK interacting protein 1B

Synonyms

Fam160a2, 4632419K20Rik, 6530415H11Rik

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105020418-105049261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105033419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 599 (P599L)

Ref Sequence

ENSEMBL: ENSMUSP00000074252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000211549] [ENSMUST00000210448]

AlphaFold

Q3U2I3

Predicted Effect

probably benign
Transcript: ENSMUST00000048079
AA Change: P613L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: P613L

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	2.8e-99	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074686
AA Change: P599L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: P599L

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.4e-100	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	825	840	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118726

SMART Domains

Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	1.8e-99	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	707	722	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122327
AA Change: P599L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: P599L

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	5.6e-98	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136298

Predicted Effect

probably benign
Transcript: ENSMUST00000137158

SMART Domains

Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	259	7.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142559

Predicted Effect

probably benign
Transcript: ENSMUST00000179474
AA Change: P599L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: P599L

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.2e-98	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	711	724	N/A	INTRINSIC
low complexity region	732	744	N/A	INTRINSIC
low complexity region	905	920	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211549

Predicted Effect

probably benign
Transcript: ENSMUST00000210448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211013

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Antxr1	C	T	6: 87,246,220 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
Gpsm2	A	T	3: 108,609,710 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,783,056 (GRCm39)	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,472,160 (GRCm39)	R136G	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,112,254 (GRCm39)	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc25a38	T	C	9: 119,949,899 (GRCm39)	V205A	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	probably damaging	Het

Other mutations in Fhip1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Fhip1b	APN	7	105,037,467 (GRCm39)	missense	probably damaging	1.00
IGL01972:Fhip1b	APN	7	105,039,352 (GRCm39)	missense	probably damaging	0.99
IGL02054:Fhip1b	APN	7	105,033,630 (GRCm39)	missense	probably damaging	1.00
IGL03037:Fhip1b	APN	7	105,028,293 (GRCm39)	missense	probably benign	0.04
IGL03278:Fhip1b	APN	7	105,034,331 (GRCm39)	missense	possibly damaging	0.93
IGL03340:Fhip1b	APN	7	105,038,517 (GRCm39)	missense	probably damaging	1.00
IGL03374:Fhip1b	APN	7	105,033,158 (GRCm39)	missense	probably damaging	1.00
R0426:Fhip1b	UTSW	7	105,038,680 (GRCm39)	missense	probably damaging	1.00
R0586:Fhip1b	UTSW	7	105,038,654 (GRCm39)	missense	probably damaging	1.00
R0686:Fhip1b	UTSW	7	105,037,516 (GRCm39)	missense	probably damaging	1.00
R1617:Fhip1b	UTSW	7	105,034,269 (GRCm39)	missense	probably damaging	1.00
R2025:Fhip1b	UTSW	7	105,038,143 (GRCm39)	missense	probably damaging	1.00
R2042:Fhip1b	UTSW	7	105,033,328 (GRCm39)	nonsense	probably null
R2049:Fhip1b	UTSW	7	105,039,046 (GRCm39)	missense	probably damaging	1.00
R2201:Fhip1b	UTSW	7	105,037,398 (GRCm39)	missense	probably damaging	1.00
R3778:Fhip1b	UTSW	7	105,037,435 (GRCm39)	missense	probably damaging	1.00
R4094:Fhip1b	UTSW	7	105,037,425 (GRCm39)	missense	probably damaging	1.00
R4348:Fhip1b	UTSW	7	105,034,556 (GRCm39)	missense	probably damaging	1.00
R4482:Fhip1b	UTSW	7	105,038,881 (GRCm39)	missense	probably benign	0.06
R4609:Fhip1b	UTSW	7	105,037,431 (GRCm39)	missense	probably damaging	1.00
R4742:Fhip1b	UTSW	7	105,033,518 (GRCm39)	missense	probably damaging	0.99
R4977:Fhip1b	UTSW	7	105,038,542 (GRCm39)	missense	probably damaging	1.00
R5642:Fhip1b	UTSW	7	105,039,089 (GRCm39)	missense	probably damaging	1.00
R6404:Fhip1b	UTSW	7	105,034,198 (GRCm39)	nonsense	probably null
R6906:Fhip1b	UTSW	7	105,037,476 (GRCm39)	missense	probably damaging	1.00
R7053:Fhip1b	UTSW	7	105,033,779 (GRCm39)	missense	probably damaging	1.00
R7265:Fhip1b	UTSW	7	105,033,432 (GRCm39)	missense	probably benign	0.00
R7808:Fhip1b	UTSW	7	105,033,732 (GRCm39)	missense	probably damaging	1.00
R8246:Fhip1b	UTSW	7	105,038,867 (GRCm39)	missense	probably damaging	0.98
R8253:Fhip1b	UTSW	7	105,028,294 (GRCm39)	missense	possibly damaging	0.54
R8379:Fhip1b	UTSW	7	105,034,342 (GRCm39)	missense	possibly damaging	0.65
R8497:Fhip1b	UTSW	7	105,030,396 (GRCm39)	missense	probably damaging	1.00
R8919:Fhip1b	UTSW	7	105,037,477 (GRCm39)	missense	possibly damaging	0.48
R9093:Fhip1b	UTSW	7	105,034,599 (GRCm39)	missense	probably damaging	0.98
R9176:Fhip1b	UTSW	7	105,030,585 (GRCm39)	missense	probably benign	0.33
R9215:Fhip1b	UTSW	7	105,034,296 (GRCm39)	missense	possibly damaging	0.95
R9244:Fhip1b	UTSW	7	105,038,870 (GRCm39)	missense	possibly damaging	0.68
R9447:Fhip1b	UTSW	7	105,034,155 (GRCm39)	missense	probably benign
R9554:Fhip1b	UTSW	7	105,038,915 (GRCm39)	missense	probably damaging	0.98
X0022:Fhip1b	UTSW	7	105,038,916 (GRCm39)	nonsense	probably null
Z1190:Fhip1b	UTSW	7	105,037,528 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AATCGTGGCACCAGACGAACCTTC -3'
(R):5'- TCGATCACCAGGGCTTACTGCATC -3'

Sequencing Primer
(F):5'- AGACGAACCTTCTTGGCTC -3'
(R):5'- AGGGCTTACTGCATCTCCAAC -3'

Posted On

2013-05-23