Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02007:Fhip1a'

182243

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 #

IGL02007

Quality Score

Status

Chromosome

Chromosomal Location

85567370-85653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85629752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 280 (P280T)

Ref Sequence

ENSEMBL: ENSMUSP00000113235 (fasta)

Gene Model

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

AlphaFold

Q505K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000094148
AA Change: P280T

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

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: P280T

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 damaging
Transcript: ENSMUST00000118408
AA Change: P280T

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

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: P280T

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

possibly damaging
Transcript: ENSMUST00000119077
AA Change: P59T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
AA Change: P59T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	C	A	14: 68,870,668 (GRCm39)	R335L	possibly damaging	Het
Adgrv1	T	C	13: 81,716,862 (GRCm39)		probably benign	Het
Calcrl	A	G	2: 84,205,668 (GRCm39)	C8R	probably benign	Het
Cntn4	T	A	6: 106,632,490 (GRCm39)	S505T	probably benign	Het
Cyp3a16	T	C	5: 145,378,758 (GRCm39)		probably benign	Het
Dync2i2	A	G	2: 29,928,402 (GRCm39)	S75P	probably benign	Het
Gpatch11	A	G	17: 79,149,593 (GRCm39)	T198A	probably benign	Het
H2-T15	G	T	17: 36,367,222 (GRCm39)	N333K	possibly damaging	Het
Heatr5a	C	A	12: 51,962,941 (GRCm39)	L986F	probably damaging	Het
Ift172	A	G	5: 31,443,948 (GRCm39)	I90T	probably benign	Het
Igkv3-9	A	G	6: 70,565,445 (GRCm39)		probably benign	Het
Iqsec1	G	A	6: 90,667,331 (GRCm39)	P369S	probably benign	Het
Myh1	C	A	11: 67,111,382 (GRCm39)	T1607K	probably benign	Het
Myo18b	T	C	5: 113,022,838 (GRCm39)		probably benign	Het
Nobox	A	G	6: 43,284,472 (GRCm39)	L58P	probably damaging	Het
Nwd2	T	A	5: 63,962,042 (GRCm39)	I542N	possibly damaging	Het
Or4k51	A	G	2: 111,584,824 (GRCm39)	T77A	probably damaging	Het
Or5p54	A	G	7: 107,553,953 (GRCm39)	Y35C	probably damaging	Het
Osm	C	T	11: 4,189,470 (GRCm39)	R85W	probably damaging	Het
Pcdh20	T	C	14: 88,707,031 (GRCm39)	R90G	probably benign	Het
Pkhd1l1	T	C	15: 44,397,129 (GRCm39)		probably benign	Het
Sec14l2	A	G	11: 4,061,114 (GRCm39)	S116P	probably benign	Het
Selenbp2	A	C	3: 94,605,461 (GRCm39)	N96H	possibly damaging	Het
Smarcal1	T	C	1: 72,635,099 (GRCm39)	S393P	probably damaging	Het
Tbc1d1	A	G	5: 64,414,335 (GRCm39)	Q103R	probably damaging	Het
Tmem63c	T	C	12: 87,119,647 (GRCm39)	Y314H	probably damaging	Het
Zfp663	A	C	2: 165,200,993 (GRCm39)	S14A	probably benign	Het
Zmynd10	A	G	9: 107,427,731 (GRCm39)	N345S	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
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
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

2014-05-07