Mutagenetix > Incidental Mutation

Incidental Mutation 'R2373:Fhip1a'

248197

Institutional Source

Beutler Lab

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 #

R2373 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

85567370-85653516 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 85583404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 464 (W464*)

Ref Sequence

ENSEMBL: ENSMUSP00000113235 (fasta)

Gene Model

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

AlphaFold

Q505K2

Predicted Effect

probably null
Transcript: ENSMUST00000094148
AA Change: W464*

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: W464*

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 null
Transcript: ENSMUST00000118408
AA Change: W464*

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: W464*

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

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9130023H24Rik	A	T	7: 127,836,487 (GRCm39)	D35E	probably benign	Het
9330159F19Rik	A	G	10: 29,101,039 (GRCm39)	N471D	probably benign	Het
Ahctf1	A	T	1: 179,623,361 (GRCm39)	F86I	probably damaging	Het
Alpk1	T	C	3: 127,473,457 (GRCm39)	T849A	probably benign	Het
Arfgef1	A	T	1: 10,244,367 (GRCm39)	D965E	probably damaging	Het
Asxl1	A	G	2: 153,243,820 (GRCm39)	T1458A	probably benign	Het
Cdc42bpa	A	T	1: 179,939,349 (GRCm39)	M876L	possibly damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Col12a1	A	T	9: 79,564,095 (GRCm39)	V1710E	probably benign	Het
Corin	G	A	5: 72,496,381 (GRCm39)	S524L	probably damaging	Het
Dennd2c	A	G	3: 103,064,158 (GRCm39)	H658R	probably damaging	Het
Disp3	A	G	4: 148,343,252 (GRCm39)	V553A	probably damaging	Het
Dpm2	T	C	2: 32,462,457 (GRCm39)	F81S	probably benign	Het
Emc2	T	A	15: 43,377,154 (GRCm39)	I239N	probably damaging	Het
Fzd5	C	T	1: 64,774,066 (GRCm39)	G565D	probably damaging	Het
Gpld1	T	C	13: 25,146,839 (GRCm39)	F267S	probably benign	Het
Kif14	C	A	1: 136,407,583 (GRCm39)	A46E	probably damaging	Het
Mta3	G	T	17: 84,091,730 (GRCm39)	E179*	probably null	Het
Ninl	T	G	2: 150,822,037 (GRCm39)	T22P	probably damaging	Het
Pcnx2	T	C	8: 126,480,190 (GRCm39)	N2039S	probably damaging	Het
Rc3h2	A	G	2: 37,269,013 (GRCm39)	S818P	possibly damaging	Het
Scn11a	T	A	9: 119,642,252 (GRCm39)	E162D	probably benign	Het
Slc5a7	A	T	17: 54,584,154 (GRCm39)	W379R	probably damaging	Het
Sptb	C	T	12: 76,667,935 (GRCm39)	V721M	probably damaging	Het
Vmn1r82	T	A	7: 12,038,982 (GRCm39)	V85E	probably damaging	Het
Vmn2r130	T	C	17: 23,280,480 (GRCm39)	I47T	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,665 (GRCm39)	F41L	probably benign	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
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
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'- TGACTAGGTGAAGACAGGTGTC -3'
(R):5'- ACACTGAATGCCTGCTCTTTG -3'

Sequencing Primer
(F):5'- GACAGGTGTCTTGGTGAATACTAACC -3'
(R):5'- GAATGCCTGCTCTTTGTCATTTCAGG -3'

Posted On

2014-11-11