Mutagenetix > Incidental Mutation

Incidental Mutation 'R1115:Fhip1a'

97131

Institutional Source

Beutler Lab

Gene Symbol

Fhip1a

Ensembl Gene

ENSMUSG00000051000

Gene Name

FHF complex subunit HOOK interacting protein 1A

Synonyms

9930021J17Rik, Fam160a1

MMRRC Submission

039188-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85567370-85653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85629802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 263 (E263G)

Ref Sequence

ENSEMBL: ENSMUSP00000113235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]

AlphaFold

Q505K2

Predicted Effect

probably benign
Transcript: ENSMUST00000094148
AA Change: E263G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: E263G

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	88	411	1.2e-102	PFAM
low complexity region	483	500	N/A	INTRINSIC
low complexity region	613	622	N/A	INTRINSIC
low complexity region	838	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118408
AA Change: E263G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: E263G

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	88	411	1.1e-98	PFAM
low complexity region	483	500	N/A	INTRINSIC
low complexity region	613	622	N/A	INTRINSIC
low complexity region	838	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119077
AA Change: E42G

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

SMART Domains

Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
AA Change: E42G

Domain	Start	End	E-Value	Type
low complexity region	67	84	N/A	INTRINSIC
low complexity region	197	206	N/A	INTRINSIC
low complexity region	422	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154148

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	A	11: 100,370,081 (GRCm39)	V994F	probably damaging	Het
Arfgap3	T	C	15: 83,214,741 (GRCm39)	T182A	probably benign	Het
Bcl2l14	T	C	6: 134,409,102 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,553,511 (GRCm39)	M1183V	possibly damaging	Het
Ccr7	A	T	11: 99,036,103 (GRCm39)	I273K	possibly damaging	Het
Cd40	A	G	2: 164,912,681 (GRCm39)	M211V	possibly damaging	Het
Coro2b	T	G	9: 62,338,609 (GRCm39)	E208A	probably damaging	Het
Dennd5a	A	C	7: 109,517,968 (GRCm39)	M556R	probably damaging	Het
Efcab2	A	T	1: 178,265,062 (GRCm39)		probably benign	Het
Fastkd2	T	C	1: 63,787,114 (GRCm39)		probably benign	Het
Fbxw8	A	C	5: 118,215,636 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,939,007 (GRCm39)	D25G	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift52	A	G	2: 162,871,702 (GRCm39)	K178R	probably benign	Het
Kit	T	C	5: 75,810,192 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,137,859 (GRCm39)		probably null	Het
Mxra7	G	T	11: 116,701,696 (GRCm39)		probably benign	Het
Myt1	C	A	2: 181,453,024 (GRCm39)	S7*	probably null	Het
Nphs1	C	T	7: 30,180,803 (GRCm39)		probably benign	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or1l8	C	A	2: 36,817,514 (GRCm39)	G204V	possibly damaging	Het
Osgin2	A	T	4: 15,998,085 (GRCm39)	D512E	possibly damaging	Het
Pde4b	T	A	4: 102,399,352 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,666,841 (GRCm39)	T146K	possibly damaging	Het
Ren1	T	A	1: 133,284,256 (GRCm39)	V207D	probably damaging	Het
S100a8	A	G	3: 90,577,180 (GRCm39)	D59G	probably damaging	Het
Sdcbp	G	A	4: 6,377,143 (GRCm39)		probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slamf7	A	T	1: 171,466,751 (GRCm39)	D151E	probably benign	Het
Slco1b2	A	G	6: 141,628,980 (GRCm39)	M561V	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stard9	T	C	2: 120,523,331 (GRCm39)	I662T	probably benign	Het
Vwf	T	A	6: 125,632,028 (GRCm39)	V20D	unknown	Het
Znhit6	G	T	3: 145,300,440 (GRCm39)		probably null	Het

Other mutations in Fhip1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fhip1a	APN	3	85,579,925 (GRCm39)	missense	probably benign	0.01
IGL01102:Fhip1a	APN	3	85,572,808 (GRCm39)	intron	probably benign
IGL01317:Fhip1a	APN	3	85,580,153 (GRCm39)	missense	probably benign	0.01
IGL01759:Fhip1a	APN	3	85,595,754 (GRCm39)	missense	probably damaging	1.00
IGL02007:Fhip1a	APN	3	85,629,752 (GRCm39)	missense	probably damaging	1.00
IGL02037:Fhip1a	APN	3	85,637,939 (GRCm39)	missense	probably damaging	0.99
IGL02163:Fhip1a	APN	3	85,595,859 (GRCm39)	missense	possibly damaging	0.92
IGL02192:Fhip1a	APN	3	85,580,633 (GRCm39)	missense	possibly damaging	0.82
IGL02617:Fhip1a	APN	3	85,580,344 (GRCm39)	missense	probably benign	0.00
PIT4378001:Fhip1a	UTSW	3	85,637,858 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Fhip1a	UTSW	3	85,579,779 (GRCm39)	nonsense	probably null
PIT4651001:Fhip1a	UTSW	3	85,590,948 (GRCm39)	missense	probably damaging	1.00
R0590:Fhip1a	UTSW	3	85,579,683 (GRCm39)	missense	probably benign	0.13
R0625:Fhip1a	UTSW	3	85,637,807 (GRCm39)	missense	possibly damaging	0.84
R0648:Fhip1a	UTSW	3	85,637,921 (GRCm39)	missense	probably damaging	1.00
R0931:Fhip1a	UTSW	3	85,580,550 (GRCm39)	missense	probably benign
R0940:Fhip1a	UTSW	3	85,572,797 (GRCm39)	missense	possibly damaging	0.92
R0941:Fhip1a	UTSW	3	85,580,366 (GRCm39)	missense	probably benign	0.03
R1161:Fhip1a	UTSW	3	85,579,775 (GRCm39)	missense	probably damaging	0.96
R1460:Fhip1a	UTSW	3	85,638,183 (GRCm39)	missense	probably damaging	1.00
R1503:Fhip1a	UTSW	3	85,579,784 (GRCm39)	missense	possibly damaging	0.70
R1545:Fhip1a	UTSW	3	85,573,261 (GRCm39)	missense	probably damaging	1.00
R1820:Fhip1a	UTSW	3	85,573,136 (GRCm39)	missense	probably damaging	1.00
R1907:Fhip1a	UTSW	3	85,579,940 (GRCm39)	missense	probably benign	0.00
R1911:Fhip1a	UTSW	3	85,568,525 (GRCm39)	missense	probably benign	0.12
R1928:Fhip1a	UTSW	3	85,595,838 (GRCm39)	missense	probably damaging	1.00
R2200:Fhip1a	UTSW	3	85,637,628 (GRCm39)	missense	probably damaging	1.00
R2235:Fhip1a	UTSW	3	85,568,408 (GRCm39)	missense	probably damaging	0.97
R2373:Fhip1a	UTSW	3	85,583,404 (GRCm39)	nonsense	probably null
R3084:Fhip1a	UTSW	3	85,573,275 (GRCm39)	critical splice acceptor site	probably null
R4125:Fhip1a	UTSW	3	85,572,690 (GRCm39)	missense	possibly damaging	0.87
R4601:Fhip1a	UTSW	3	85,648,487 (GRCm39)	missense	probably damaging	1.00
R4612:Fhip1a	UTSW	3	85,637,679 (GRCm39)	nonsense	probably null
R4665:Fhip1a	UTSW	3	85,637,988 (GRCm39)	missense	probably damaging	1.00
R4673:Fhip1a	UTSW	3	85,638,020 (GRCm39)	missense	probably damaging	1.00
R4707:Fhip1a	UTSW	3	85,595,877 (GRCm39)	missense	probably damaging	1.00
R4783:Fhip1a	UTSW	3	85,595,877 (GRCm39)	missense	probably damaging	1.00
R4785:Fhip1a	UTSW	3	85,595,877 (GRCm39)	missense	probably damaging	1.00
R4825:Fhip1a	UTSW	3	85,580,739 (GRCm39)	missense	possibly damaging	0.93
R4884:Fhip1a	UTSW	3	85,590,918 (GRCm39)	missense	probably damaging	1.00
R5653:Fhip1a	UTSW	3	85,629,808 (GRCm39)	missense	probably damaging	1.00
R5663:Fhip1a	UTSW	3	85,579,740 (GRCm39)	missense	probably benign
R5764:Fhip1a	UTSW	3	85,573,172 (GRCm39)	missense	probably damaging	1.00
R6134:Fhip1a	UTSW	3	85,580,651 (GRCm39)	missense	possibly damaging	0.93
R6284:Fhip1a	UTSW	3	85,579,995 (GRCm39)	missense	probably benign	0.01
R6789:Fhip1a	UTSW	3	85,579,865 (GRCm39)	nonsense	probably null
R6843:Fhip1a	UTSW	3	85,580,352 (GRCm39)	missense	probably damaging	0.96
R7305:Fhip1a	UTSW	3	85,637,831 (GRCm39)	missense	probably damaging	1.00
R7406:Fhip1a	UTSW	3	85,637,784 (GRCm39)	missense	probably benign	0.13
R7448:Fhip1a	UTSW	3	85,579,871 (GRCm39)	missense	probably benign	0.00
R7469:Fhip1a	UTSW	3	85,580,069 (GRCm39)	missense	probably benign	0.00
R7578:Fhip1a	UTSW	3	85,573,205 (GRCm39)	missense	probably damaging	0.99
R7707:Fhip1a	UTSW	3	85,583,560 (GRCm39)	missense	probably benign	0.21
R8071:Fhip1a	UTSW	3	85,637,868 (GRCm39)	missense	probably damaging	1.00
R8093:Fhip1a	UTSW	3	85,580,111 (GRCm39)	missense	probably benign	0.01
R8151:Fhip1a	UTSW	3	85,595,847 (GRCm39)	missense	probably damaging	1.00
R8391:Fhip1a	UTSW	3	85,595,788 (GRCm39)	missense	probably damaging	0.98
R8406:Fhip1a	UTSW	3	85,580,027 (GRCm39)	missense	probably benign	0.02
R8774:Fhip1a	UTSW	3	85,580,097 (GRCm39)	missense	probably benign	0.00
R8774-TAIL:Fhip1a	UTSW	3	85,580,097 (GRCm39)	missense	probably benign	0.00
R8843:Fhip1a	UTSW	3	85,568,318 (GRCm39)	missense	possibly damaging	0.89
R9079:Fhip1a	UTSW	3	85,579,590 (GRCm39)	nonsense	probably null
R9277:Fhip1a	UTSW	3	85,579,565 (GRCm39)	missense	probably benign	0.25
R9302:Fhip1a	UTSW	3	85,579,941 (GRCm39)	missense	probably damaging	0.99
R9324:Fhip1a	UTSW	3	85,638,053 (GRCm39)	missense	probably benign	0.16
R9494:Fhip1a	UTSW	3	85,583,565 (GRCm39)	nonsense	probably null
R9516:Fhip1a	UTSW	3	85,580,559 (GRCm39)	nonsense	probably null
R9638:Fhip1a	UTSW	3	85,568,391 (GRCm39)	missense	probably damaging	0.99
R9654:Fhip1a	UTSW	3	85,579,532 (GRCm39)	missense	probably damaging	1.00
Z1176:Fhip1a	UTSW	3	85,580,508 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCACGGGATTCAAGCAGAGCATC -3'
(R):5'- GCACTGGCATTCTATTGGCACTCAC -3'

Sequencing Primer
(F):5'- acacacacacacacacacc -3'
(R):5'- AGCTAAGTAGCTCCACATTTGC -3'

Posted On

2014-01-05