Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02617:Fhip1a'

300705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhip1a

Ensembl Gene

ENSMUSG00000051000

Gene Name

FHF complex subunit HOOK interacting protein 1A

Synonyms

9930021J17Rik, Fam160a1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02617

Quality Score

Status

Chromosome

Chromosomal Location

85567370-85653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85580344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 620 (D620E)

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: D620E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: D620E

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: D620E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: D620E

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

SMART Domains

Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000

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

noncoding transcript
Transcript: ENSMUST00000126445

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,394,807 (GRCm39)	Q172*	probably null	Het
Adgrg5	A	G	8: 95,660,610 (GRCm39)	D79G	probably benign	Het
Aga	G	A	8: 53,973,348 (GRCm39)	D249N	possibly damaging	Het
Aifm3	A	G	16: 17,318,397 (GRCm39)	Q170R	probably null	Het
Cdh2	T	A	18: 16,760,661 (GRCm39)	N512Y	probably damaging	Het
Chd8	A	G	14: 52,472,648 (GRCm39)	I385T	probably benign	Het
Clic6	A	G	16: 92,296,206 (GRCm39)	K289E	probably benign	Het
Ctcf	G	T	8: 106,403,842 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,488,628 (GRCm39)	Y3447H	probably benign	Het
Fmo2	T	A	1: 162,704,490 (GRCm39)	Q472L	probably damaging	Het
Gcnt3	C	A	9: 69,941,444 (GRCm39)	G375W	probably damaging	Het
Golga3	T	A	5: 110,336,612 (GRCm39)	V417E	probably benign	Het
Hivep3	T	C	4: 119,952,641 (GRCm39)	L319P	probably benign	Het
Kctd13	A	G	7: 126,541,504 (GRCm39)	K248R	possibly damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Niban1	T	A	1: 151,447,296 (GRCm39)	S6T	probably benign	Het
Nmt2	A	G	2: 3,315,750 (GRCm39)	I247V	probably benign	Het
Or14a256	T	G	7: 86,264,872 (GRCm39)	H327P	probably benign	Het
Or1e30	T	A	11: 73,678,560 (GRCm39)	N265K	probably benign	Het
Pcdhb12	T	C	18: 37,570,099 (GRCm39)	V415A	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prr27	T	A	5: 87,990,518 (GRCm39)	N43K	probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sec24a	A	T	11: 51,603,014 (GRCm39)		probably null	Het
Srek1ip1	C	A	13: 104,973,984 (GRCm39)	H130Q	possibly damaging	Het
Trio	C	T	15: 27,841,935 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,608,614 (GRCm39)		probably benign	Het
Vmn2r65	C	A	7: 84,589,549 (GRCm39)	S789I	probably damaging	Het
Zbtb17	A	G	4: 141,192,399 (GRCm39)	Q448R	probably damaging	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
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
R1115:Fhip1a	UTSW	3	85,629,802 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16