Mutagenetix > Incidental Mutation

Incidental Mutation 'R2200:Fhip1a'

238594

Institutional Source

Beutler Lab

Gene Symbol

Fhip1a

Ensembl Gene

ENSMUSG00000051000

Gene Name

FHF complex subunit HOOK interacting protein 1A

Synonyms

9930021J17Rik, Fam160a1

MMRRC Submission

040202-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85567370-85653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85637628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 224 (S224P)

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: S224P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: S224P

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: S224P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: S224P

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

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer1	T	C	17: 57,265,423 (GRCm39)	I135M	probably benign	Het
Ano7	A	G	1: 93,308,158 (GRCm39)	E63G	possibly damaging	Het
Asah1	A	G	8: 41,796,765 (GRCm39)		probably null	Het
B3gat2	C	T	1: 23,801,873 (GRCm39)	P53L	probably benign	Het
Bmp8b	A	T	4: 123,016,815 (GRCm39)	M339L	possibly damaging	Het
Bpifb9b	C	A	2: 154,155,574 (GRCm39)	Q358K	probably benign	Het
Cbs	T	C	17: 31,843,238 (GRCm39)	D231G	probably damaging	Het
Chd6	A	G	2: 160,825,673 (GRCm39)	Y1144H	probably damaging	Het
Clca3a2	T	A	3: 144,519,685 (GRCm39)	I230L	probably benign	Het
Clec2d	A	T	6: 129,161,831 (GRCm39)	T155S	possibly damaging	Het
Cpxm1	G	T	2: 130,235,117 (GRCm39)	F567L	probably damaging	Het
Cyp4f16	G	T	17: 32,756,078 (GRCm39)	A36S	probably damaging	Het
Dnah17	T	C	11: 117,993,235 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,791,676 (GRCm39)	D1280G	probably damaging	Het
Ergic1	C	A	17: 26,860,566 (GRCm39)	A218D	possibly damaging	Het
Eva1a	A	G	6: 82,068,894 (GRCm39)	R74G	probably benign	Het
Fus	T	A	7: 127,576,400 (GRCm39)	N273K	probably damaging	Het
Ipo13	A	C	4: 117,762,100 (GRCm39)		probably null	Het
Itgb3	T	A	11: 104,531,812 (GRCm39)		probably null	Het
Lrif1	T	A	3: 106,641,874 (GRCm39)	S63R	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 41,174,177 (GRCm39)	N1547K	probably benign	Het
Mme	A	T	3: 63,287,713 (GRCm39)	N738I	possibly damaging	Het
Morc2a	A	G	11: 3,633,919 (GRCm39)	N677S	probably benign	Het
Mrpl35	A	C	6: 71,794,723 (GRCm39)	L82V	probably benign	Het
Mybpc1	A	T	10: 88,391,557 (GRCm39)	N313K	probably damaging	Het
Podn	T	C	4: 107,879,787 (GRCm39)	D66G	probably damaging	Het
Ptpru	A	T	4: 131,548,124 (GRCm39)	N52K	probably damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Qser1	A	G	2: 104,619,358 (GRCm39)	S485P	probably damaging	Het
Rbm46	A	T	3: 82,771,351 (GRCm39)	D421E	probably benign	Het
Rgs10	T	C	7: 127,990,761 (GRCm39)	E109G	probably damaging	Het
Samd8	C	T	14: 21,825,388 (GRCm39)	P178S	probably benign	Het
Scaf11	T	C	15: 96,318,404 (GRCm39)	K387E	probably damaging	Het
Sccpdh	G	T	1: 179,498,171 (GRCm39)	V72F	possibly damaging	Het
Sec22a	A	T	16: 35,134,527 (GRCm39)	V285E	probably damaging	Het
Slc19a3	A	G	1: 83,000,664 (GRCm39)	S118P	probably damaging	Het
Sun1	C	A	5: 139,216,974 (GRCm39)	R338S	probably benign	Het
Taf1c	A	G	8: 120,325,417 (GRCm39)	F815S	probably benign	Het
Zcchc14	A	T	8: 122,332,167 (GRCm39)		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
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'- AAACTTGGGTAGCTCTGCTG -3'
(R):5'- GGAAAGCTAGTTGTCCTGCTC -3'

Sequencing Primer
(F):5'- TGCTGCCTCCAAGCATG -3'
(R):5'- GAAAGCTAGTTGTCCTGCTCAATCAG -3'

Posted On

2014-10-02