Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03151:Fam170a'

411104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam170a

Ensembl Gene

ENSMUSG00000035420

Gene Name

family with sequence similarity 170, member A

Synonyms

LOC225497, Znfd

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03151

Quality Score

Status

Chromosome

Chromosomal Location

50411436-50416087 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50414708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 118 (E118G)

Ref Sequence

ENSEMBL: ENSMUSP00000035910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039121]

AlphaFold

Q66LM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000039121
AA Change: E118G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035910
Gene: ENSMUSG00000035420
AA Change: E118G

Domain	Start	End	E-Value	Type
low complexity region	92	105	N/A	INTRINSIC
low complexity region	181	200	N/A	INTRINSIC
ZnF_C2H2	224	244	2.35e1	SMART
low complexity region	268	300	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	G	A	12: 84,061,326 (GRCm39)	A211T	probably damaging	Het
Ampd1	T	C	3: 102,999,786 (GRCm39)		probably null	Het
Armc3	T	G	2: 19,243,509 (GRCm39)	L75R	probably damaging	Het
Atp9b	T	C	18: 80,820,065 (GRCm39)	D573G	probably benign	Het
Baz1a	T	A	12: 54,955,934 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,496,730 (GRCm39)	I389F	probably benign	Het
Ccdc87	T	A	19: 4,891,585 (GRCm39)	N692K	probably benign	Het
Ccr9	A	G	9: 123,603,638 (GRCm39)		probably benign	Het
Ces4a	G	T	8: 105,874,829 (GRCm39)		probably null	Het
Dazap1	G	A	10: 80,116,754 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,103,516 (GRCm39)	Y45H	probably damaging	Het
Eloa	A	T	4: 135,737,732 (GRCm39)	Y409*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glra1	C	T	11: 55,418,206 (GRCm39)	V180I	probably damaging	Het
Il17rb	T	C	14: 29,728,810 (GRCm39)	T28A	probably benign	Het
Ints9	T	A	14: 65,269,789 (GRCm39)	V493E	possibly damaging	Het
Kcnq5	C	T	1: 21,605,293 (GRCm39)	C204Y	probably damaging	Het
Npc1	A	T	18: 12,352,332 (GRCm39)	N122K	probably benign	Het
Or2b4	G	A	17: 38,116,159 (GRCm39)	G41D	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Prss59	A	G	6: 40,902,946 (GRCm39)	F142S	probably damaging	Het
Rab10	G	A	12: 3,299,812 (GRCm39)	T193M	probably benign	Het
Serpini1	T	A	3: 75,520,603 (GRCm39)	S67T	probably benign	Het
Slc35b1	T	C	11: 95,281,212 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,252,750 (GRCm39)	H388L	probably benign	Het
Tfap2c	T	A	2: 172,399,110 (GRCm39)	C427*	probably null	Het
Trappc14	A	G	5: 138,260,934 (GRCm39)	L237S	possibly damaging	Het
Ttn	G	T	2: 76,632,732 (GRCm39)	F14107L	probably damaging	Het
Upf1	G	T	8: 70,788,037 (GRCm39)	T774K	probably damaging	Het
Vmn1r170	G	A	7: 23,306,002 (GRCm39)	V135M	probably benign	Het
Vmn2r14	C	T	5: 109,364,260 (GRCm39)	C552Y	probably damaging	Het
Zfp367	A	G	13: 64,293,445 (GRCm39)	I147T	probably damaging	Het
Zfp952	T	C	17: 33,221,982 (GRCm39)	S116P	probably benign	Het

Other mutations in Fam170a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Fam170a	APN	18	50,414,845 (GRCm39)	missense	probably benign	0.00
IGL01637:Fam170a	APN	18	50,414,734 (GRCm39)	missense	possibly damaging	0.88
IGL01681:Fam170a	APN	18	50,415,302 (GRCm39)	missense	possibly damaging	0.55
IGL03263:Fam170a	APN	18	50,413,588 (GRCm39)	splice site	probably benign
R0446:Fam170a	UTSW	18	50,413,699 (GRCm39)	missense	possibly damaging	0.92
R1029:Fam170a	UTSW	18	50,414,741 (GRCm39)	missense	probably damaging	1.00
R1242:Fam170a	UTSW	18	50,415,206 (GRCm39)	missense	probably damaging	0.96
R1958:Fam170a	UTSW	18	50,415,181 (GRCm39)	missense	probably benign	0.04
R2325:Fam170a	UTSW	18	50,414,917 (GRCm39)	missense	possibly damaging	0.56
R3722:Fam170a	UTSW	18	50,415,271 (GRCm39)	missense	probably benign	0.16
R4012:Fam170a	UTSW	18	50,415,038 (GRCm39)	missense	probably damaging	1.00
R4240:Fam170a	UTSW	18	50,414,734 (GRCm39)	missense	possibly damaging	0.88
R4835:Fam170a	UTSW	18	50,415,050 (GRCm39)	missense	probably damaging	0.98
R5030:Fam170a	UTSW	18	50,415,021 (GRCm39)	missense	probably benign	0.00
R5201:Fam170a	UTSW	18	50,415,193 (GRCm39)	missense	probably benign	0.00
R5401:Fam170a	UTSW	18	50,413,618 (GRCm39)	missense	probably benign	0.20
R5907:Fam170a	UTSW	18	50,415,321 (GRCm39)	critical splice donor site	probably null
R6207:Fam170a	UTSW	18	50,415,017 (GRCm39)	missense	probably damaging	0.99
R7080:Fam170a	UTSW	18	50,413,740 (GRCm39)	critical splice donor site	probably null
R7232:Fam170a	UTSW	18	50,414,728 (GRCm39)	missense	probably damaging	1.00
R7622:Fam170a	UTSW	18	50,415,969 (GRCm39)	missense	probably benign	0.20
R8359:Fam170a	UTSW	18	50,414,677 (GRCm39)	missense	probably damaging	1.00
Z1176:Fam170a	UTSW	18	50,414,651 (GRCm39)	missense	possibly damaging	0.60

Posted On

2016-08-02