Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Fam90a1a'

351048

Institutional Source

Beutler Lab

Gene Symbol

Fam90a1a

Ensembl Gene

ENSMUSG00000079112

Gene Name

family with sequence similarity 90, member A1A

Synonyms

C86695

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4616 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

22448730-22454319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22453862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 406 (Q406K)

Ref Sequence

ENSEMBL: ENSMUSP00000106369 (fasta)

Gene Model

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

AlphaFold

A2A4E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110741
AA Change: Q406K

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106369
Gene: ENSMUSG00000079112
AA Change: Q406K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	C	T	14: 103,292,781 (GRCm39)	T435M	probably benign	Het
Adgrf5	T	C	17: 43,763,331 (GRCm39)	F1078L	probably benign	Het
Adh6a	A	T	3: 138,030,708 (GRCm39)	N110I	probably damaging	Het
Aldh16a1	T	C	7: 44,798,212 (GRCm39)		probably benign	Het
Aopep	G	A	13: 63,446,565 (GRCm39)	E123K	probably damaging	Het
Arhgef17	A	G	7: 100,531,692 (GRCm39)	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,839,506 (GRCm39)	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,824,908 (GRCm39)	S28P	possibly damaging	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Cfb	T	A	17: 35,078,044 (GRCm39)	H962L	probably benign	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Clec16a	T	A	16: 10,462,747 (GRCm39)		probably null	Het
Cyp1a1	T	C	9: 57,609,039 (GRCm39)	S307P	probably benign	Het
Dsg3	T	C	18: 20,664,616 (GRCm39)	V538A	probably benign	Het
Erbb3	G	A	10: 128,408,639 (GRCm39)	Q815*	probably null	Het
Frmd3	T	C	4: 74,106,109 (GRCm39)	V585A	probably benign	Het
Gm8214	T	C	1: 183,414,094 (GRCm39)		noncoding transcript	Het
Gpld1	G	A	13: 25,168,799 (GRCm39)	G771D	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Gria2	A	T	3: 80,614,204 (GRCm39)	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,572,010 (GRCm39)	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,842,839 (GRCm39)	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,435,019 (GRCm39)	M1K	probably null	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Itpr1	A	G	6: 108,458,184 (GRCm39)	N1985D	probably damaging	Het
Jkampl	A	G	6: 73,446,252 (GRCm39)	V99A	probably benign	Het
Lama3	T	C	18: 12,637,454 (GRCm39)		probably null	Het
Lamc2	T	C	1: 153,041,915 (GRCm39)	Y73C	probably damaging	Het
Maff	A	G	15: 79,241,898 (GRCm39)	D105G	probably damaging	Het
Mep1a	C	T	17: 43,797,132 (GRCm39)	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrgbp	A	T	2: 180,227,107 (GRCm39)		silent	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Myo7b	T	C	18: 32,136,540 (GRCm39)		probably null	Het
Myo9a	T	C	9: 59,728,932 (GRCm39)	I596T	probably damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Or52e3	C	T	7: 102,869,629 (GRCm39)	R235*	probably null	Het
Pcsk5	T	G	19: 17,538,114 (GRCm39)	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,128,970 (GRCm39)	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,012,087 (GRCm39)	I337N	probably damaging	Het
Psmd3	T	C	11: 98,573,752 (GRCm39)	V66A	probably benign	Het
Ptger3	T	C	3: 157,272,931 (GRCm39)	S93P	probably damaging	Het
Rbm27	T	A	18: 42,434,840 (GRCm39)	D301E	probably damaging	Het
Rdh16	A	T	10: 127,637,382 (GRCm39)		probably null	Het
Slc35a5	A	T	16: 44,964,655 (GRCm39)	F193I	probably benign	Het
Slc4a4	A	G	5: 89,186,420 (GRCm39)	K167R	probably damaging	Het
Sort1	A	T	3: 108,262,857 (GRCm39)	T772S	possibly damaging	Het
Sptbn5	T	A	2: 119,879,238 (GRCm39)		noncoding transcript	Het
Stard5	G	T	7: 83,282,489 (GRCm39)		probably benign	Het
Tbc1d22a	A	G	15: 86,119,886 (GRCm39)	T61A	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Usp53	A	T	3: 122,752,769 (GRCm39)	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,990,135 (GRCm39)	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 41,661,862 (GRCm39)	I651T	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zfhx4	T	C	3: 5,478,127 (GRCm39)	S3556P	possibly damaging	Het

Other mutations in Fam90a1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Fam90a1a	APN	8	22,449,313 (GRCm39)	missense	probably benign	0.00
R0442:Fam90a1a	UTSW	8	22,453,074 (GRCm39)	missense	probably benign	0.00
R1708:Fam90a1a	UTSW	8	22,451,464 (GRCm39)	missense	probably damaging	0.96
R1733:Fam90a1a	UTSW	8	22,453,385 (GRCm39)	nonsense	probably null
R1783:Fam90a1a	UTSW	8	22,453,479 (GRCm39)	missense	probably benign
R1818:Fam90a1a	UTSW	8	22,453,788 (GRCm39)	missense	probably damaging	0.98
R1818:Fam90a1a	UTSW	8	22,453,787 (GRCm39)	missense	possibly damaging	0.68
R1998:Fam90a1a	UTSW	8	22,453,713 (GRCm39)	missense	probably benign
R2256:Fam90a1a	UTSW	8	22,453,533 (GRCm39)	missense	possibly damaging	0.96
R2257:Fam90a1a	UTSW	8	22,453,533 (GRCm39)	missense	possibly damaging	0.96
R3747:Fam90a1a	UTSW	8	22,453,221 (GRCm39)	nonsense	probably null
R3976:Fam90a1a	UTSW	8	22,451,432 (GRCm39)	missense	probably damaging	0.99
R4667:Fam90a1a	UTSW	8	22,453,362 (GRCm39)	missense	possibly damaging	0.53
R5749:Fam90a1a	UTSW	8	22,453,057 (GRCm39)	missense	possibly damaging	0.92
R6462:Fam90a1a	UTSW	8	22,449,298 (GRCm39)	missense	probably benign	0.00
R6807:Fam90a1a	UTSW	8	22,453,368 (GRCm39)	missense	probably benign	0.33
R7214:Fam90a1a	UTSW	8	22,453,641 (GRCm39)	missense	probably benign	0.01
R8038:Fam90a1a	UTSW	8	22,453,455 (GRCm39)	missense	possibly damaging	0.96
R8924:Fam90a1a	UTSW	8	22,451,429 (GRCm39)	missense	probably benign
R9267:Fam90a1a	UTSW	8	22,453,091 (GRCm39)	missense	probably benign	0.00
R9323:Fam90a1a	UTSW	8	22,453,640 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGAGTTCCACAGGGCATCCG -3'
(R):5'- GTGCTCATTTGGAAGTACCCTG -3'

Sequencing Primer
(F):5'- ATCCGCTGGCCGTGTTG -3'
(R):5'- GCTCATTTGGAAGTACCCTGACATG -3'

Posted On

2015-10-08