Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02970:Fam43a'

365780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam43a

Ensembl Gene

ENSMUSG00000046546

Gene Name

family with sequence similarity 43, member A

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL02970

Quality Score

Status

Chromosome

Chromosomal Location

30418541-30421615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30419922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 169 (R169C)

Ref Sequence

ENSEMBL: ENSMUSP00000056555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059078]

AlphaFold

Q8BUP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059078
AA Change: R169C

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

SMART Domains

Protein: ENSMUSP00000056555
Gene: ENSMUSG00000046546
AA Change: R169C

Domain	Start	End	E-Value	Type
Pfam:PID_2	69	256	3e-79	PFAM
low complexity region	329	345	N/A	INTRINSIC
low complexity region	382	399	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,226,748 (GRCm39)	G5S	probably damaging	Het
A2ml1	A	T	6: 128,546,942 (GRCm39)	F396I	probably damaging	Het
BC051019	T	A	7: 109,315,262 (GRCm39)	N331I	probably benign	Het
Crocc	G	A	4: 140,757,557 (GRCm39)	S912L	possibly damaging	Het
Dcaf4	A	G	12: 83,575,989 (GRCm39)	D46G	probably damaging	Het
Dido1	C	T	2: 180,331,208 (GRCm39)	R80Q	probably damaging	Het
Dnase2b	A	G	3: 146,288,261 (GRCm39)	V278A	probably damaging	Het
Drosha	C	T	15: 12,914,042 (GRCm39)	L1106F	probably damaging	Het
Dsc3	C	A	18: 20,101,317 (GRCm39)	W692L	probably damaging	Het
F2	T	A	2: 91,455,896 (GRCm39)	Y579F	possibly damaging	Het
Gm9772	A	G	17: 22,225,540 (GRCm39)	F120S	probably damaging	Het
Gsdma3	T	C	11: 98,523,819 (GRCm39)	S251P	probably benign	Het
Hycc2	T	C	1: 58,578,776 (GRCm39)	E258G	probably damaging	Het
Itgam	G	A	7: 127,685,215 (GRCm39)	E443K	probably benign	Het
Kif18a	T	C	2: 109,118,233 (GRCm39)	V16A	probably damaging	Het
Lrrn3	T	G	12: 41,502,359 (GRCm39)	S653R	probably benign	Het
Map1b	A	T	13: 99,567,242 (GRCm39)	Y1826*	probably null	Het
Mbnl1	T	C	3: 60,520,844 (GRCm39)	F139S	probably damaging	Het
Micu3	T	C	8: 40,835,171 (GRCm39)	Y509H	possibly damaging	Het
Ncmap	T	C	4: 135,104,329 (GRCm39)	T17A	probably damaging	Het
Oas1h	T	A	5: 120,999,698 (GRCm39)	M61K	possibly damaging	Het
Otog	T	A	7: 45,945,291 (GRCm39)	W2183R	probably benign	Het
Pcdh15	T	C	10: 74,126,794 (GRCm39)		probably benign	Het
Plekho1	C	T	3: 95,898,214 (GRCm39)	V150I	probably damaging	Het
Ppargc1b	A	G	18: 61,431,837 (GRCm39)	S1004P	probably damaging	Het
Prf1	T	C	10: 61,135,957 (GRCm39)	S78P	probably benign	Het
Prss12	A	G	3: 123,276,411 (GRCm39)	S347G	probably benign	Het
Rai1	T	C	11: 60,076,559 (GRCm39)	S208P	probably damaging	Het
Sgms1	A	G	19: 32,137,165 (GRCm39)	Y134H	probably damaging	Het
Sult2a4	A	G	7: 13,643,831 (GRCm39)		probably benign	Het
T	C	T	17: 8,654,217 (GRCm39)	A134V	probably damaging	Het
Thoc5	A	G	11: 4,854,201 (GRCm39)	T187A	probably damaging	Het
Ticrr	A	G	7: 79,344,919 (GRCm39)	S1595G	probably benign	Het
Tiprl	A	G	1: 165,064,315 (GRCm39)	S30P	probably damaging	Het
Ttl	T	C	2: 128,917,990 (GRCm39)	S151P	probably damaging	Het
Ttn	T	A	2: 76,583,334 (GRCm39)	T22520S	probably damaging	Het
Usp54	G	A	14: 20,627,540 (GRCm39)	S420L	probably damaging	Het
Vmn1r62	T	A	7: 5,678,567 (GRCm39)	Y83N	possibly damaging	Het

Other mutations in Fam43a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Fam43a	APN	16	30,419,481 (GRCm39)	missense	probably damaging	0.97
IGL02525:Fam43a	APN	16	30,419,596 (GRCm39)	missense	probably benign	0.09
IGL03027:Fam43a	APN	16	30,419,922 (GRCm39)	missense	probably damaging	1.00
R0512:Fam43a	UTSW	16	30,420,553 (GRCm39)	missense	possibly damaging	0.94
R2996:Fam43a	UTSW	16	30,419,838 (GRCm39)	missense	possibly damaging	0.81
R3747:Fam43a	UTSW	16	30,420,664 (GRCm39)	missense	probably benign	0.05
R5614:Fam43a	UTSW	16	30,420,490 (GRCm39)	missense	possibly damaging	0.95
R5867:Fam43a	UTSW	16	30,420,277 (GRCm39)	missense	probably benign
R8052:Fam43a	UTSW	16	30,420,622 (GRCm39)	missense	probably benign	0.02
R8199:Fam43a	UTSW	16	30,419,586 (GRCm39)	nonsense	probably null
R8282:Fam43a	UTSW	16	30,420,106 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18