Mutagenetix > Incidental Mutations

Incidental Mutation 'R5749:Fam90a1a'

445924

Institutional Source

Beutler Lab

Gene Symbol

Fam90a1a

Ensembl Gene

ENSMUSG00000079112

Gene Name

family with sequence similarity 90, member A1A

Synonyms

C86695

MMRRC Submission

043200-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21958714-21964303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21963041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 137 (S137R)

Ref Sequence

ENSEMBL: ENSMUSP00000106369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110741]

AlphaFold

A2A4E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110741
AA Change: S137R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106369
Gene: ENSMUSG00000079112
AA Change: S137R

Domain	Start	End	E-Value	Type
ZnF_C2HC	39	57	2.08e-1	SMART
low complexity region	379	384	N/A	INTRINSIC
low complexity region	388	401	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,324,055		probably null	Het
Ankrd12	T	C	17: 65,986,096	S781G	probably benign	Het
Bicc1	A	G	10: 70,946,969	S523P	probably benign	Het
Ccdc163	T	A	4: 116,714,112	C44*	probably null	Het
Ccdc83	T	C	7: 90,223,948	T400A	probably damaging	Het
Cobl	A	G	11: 12,266,965	S426P	possibly damaging	Het
Cyhr1	A	C	15: 76,658,644		probably null	Het
Cyp2b19	T	C	7: 26,763,419	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,639,347	C92G	probably damaging	Het
Fbxo17	G	A	7: 28,737,472	R284H	probably damaging	Het
Fem1b	A	G	9: 62,797,006	L324P	probably damaging	Het
Fsd1	T	A	17: 55,995,849		probably null	Het
Gtpbp4	A	G	13: 8,995,947		probably null	Het
Ifi209	A	C	1: 173,637,327	I8L	probably damaging	Het
Itga8	T	C	2: 12,262,078	E182G	probably damaging	Het
Itsn1	T	A	16: 91,906,855	L87H	probably damaging	Het
Klk1b16	T	C	7: 44,140,786	I160T	probably benign	Het
Lbp	T	A	2: 158,319,753	V52D	probably damaging	Het
Med23	T	C	10: 24,888,449	V318A	possibly damaging	Het
Myo16	C	T	8: 10,413,245	S604L	probably benign	Het
Olfr1113	C	T	2: 87,212,943	T17I	probably benign	Het
Olfr1448	A	G	19: 12,920,225	V28A	probably benign	Het
Olfr1510	T	A	14: 52,410,504	M123L	probably damaging	Het
Olfr768	A	T	10: 129,093,097	N292K	probably damaging	Het
Pcdh8	T	C	14: 79,770,085	D346G	probably damaging	Het
Ppara	A	T	15: 85,789,028	D140V	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Prss36	T	A	7: 127,933,642	I192F	probably damaging	Het
Psg25	T	C	7: 18,524,851	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,856,371	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,242,757	T796S	probably damaging	Het
Stard9	A	G	2: 120,703,786	H3508R	probably damaging	Het
Tep1	T	A	14: 50,844,072	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,249,310	E59G	probably damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Tns3	A	T	11: 8,451,177	H1040Q	probably benign	Het
Usp10	G	A	8: 119,941,133	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,733,273	T512A	probably benign	Het
Vmn2r52	C	T	7: 10,159,032	D727N	probably damaging	Het
Vmn2r66	T	A	7: 85,006,771	K346*	probably null	Het
Vmn2r93	T	A	17: 18,298,284	F2I	probably benign	Het
Zfp697	T	C	3: 98,425,464	S69P	probably benign	Het

Other mutations in Fam90a1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Fam90a1a	APN	8	21959297	missense	probably benign	0.00
R0442:Fam90a1a	UTSW	8	21963058	missense	probably benign	0.00
R1708:Fam90a1a	UTSW	8	21961448	missense	probably damaging	0.96
R1733:Fam90a1a	UTSW	8	21963369	nonsense	probably null
R1783:Fam90a1a	UTSW	8	21963463	missense	probably benign
R1818:Fam90a1a	UTSW	8	21963771	missense	possibly damaging	0.68
R1818:Fam90a1a	UTSW	8	21963772	missense	probably damaging	0.98
R1998:Fam90a1a	UTSW	8	21963697	missense	probably benign
R2256:Fam90a1a	UTSW	8	21963517	missense	possibly damaging	0.96
R2257:Fam90a1a	UTSW	8	21963517	missense	possibly damaging	0.96
R3747:Fam90a1a	UTSW	8	21963205	nonsense	probably null
R3976:Fam90a1a	UTSW	8	21961416	missense	probably damaging	0.99
R4616:Fam90a1a	UTSW	8	21963846	missense	possibly damaging	0.48
R4667:Fam90a1a	UTSW	8	21963346	missense	possibly damaging	0.53
R6462:Fam90a1a	UTSW	8	21959282	missense	probably benign	0.00
R6807:Fam90a1a	UTSW	8	21963352	missense	probably benign	0.33
R7214:Fam90a1a	UTSW	8	21963625	missense	probably benign	0.01
R8038:Fam90a1a	UTSW	8	21963439	missense	possibly damaging	0.96
R8924:Fam90a1a	UTSW	8	21961413	missense	probably benign
R9267:Fam90a1a	UTSW	8	21963075	missense	probably benign	0.00
R9323:Fam90a1a	UTSW	8	21963624	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACCATGCTGCAAGTTTTG -3'
(R):5'- TGAGGCCGAGTTTCTTCCATC -3'

Sequencing Primer
(F):5'- CCACCATGCTGCAAGTTTTGGATAG -3'
(R):5'- ATCCTGCCTGAGCACTAGC -3'

Posted On

2016-11-21