Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01980:Fam185a'

182713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam185a

Ensembl Gene

ENSMUSG00000047221

Gene Name

family with sequence similarity 185, member A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01980

Quality Score

Status

Chromosome

Chromosomal Location

21629956-21687122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21664171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 302 (K302E)

Ref Sequence

ENSEMBL: ENSMUSP00000058333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056045]

AlphaFold

Q7TPD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000056045
AA Change: K302E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
AA Change: K302E

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146056

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
Ankrd60	C	T	2: 173,412,996 (GRCm39)	C164Y	probably benign	Het
Atp13a2	C	T	4: 140,733,463 (GRCm39)	A979V	probably benign	Het
Col5a2	C	T	1: 45,421,393 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,658,184 (GRCm39)	N676S	probably damaging	Het
Cpa1	T	C	6: 30,641,581 (GRCm39)	F192L	possibly damaging	Het
Entpd6	T	A	2: 150,604,286 (GRCm39)		probably null	Het
Il12rb2	T	C	6: 67,337,519 (GRCm39)	K121E	probably benign	Het
Impg2	G	A	16: 56,041,890 (GRCm39)	C178Y	probably damaging	Het
Kdm3b	G	T	18: 34,967,289 (GRCm39)	C1698F	probably damaging	Het
Llgl2	A	G	11: 115,740,851 (GRCm39)	D451G	probably damaging	Het
Mgat4b	T	A	11: 50,121,540 (GRCm39)	L52Q	probably damaging	Het
Mmp9	C	A	2: 164,792,836 (GRCm39)	S363R	probably benign	Het
Mtfmt	A	G	9: 65,344,356 (GRCm39)	Y94C	probably benign	Het
Myo7b	G	A	18: 32,094,953 (GRCm39)	L1881F	possibly damaging	Het
Or51a10	A	T	7: 103,699,300 (GRCm39)	M87K	probably benign	Het
Or6c6	G	T	10: 129,187,386 (GRCm39)		probably benign	Het
Pex5	T	C	6: 124,375,339 (GRCm39)	N524S	probably damaging	Het
Plppr1	A	T	4: 49,319,992 (GRCm39)	Y206F	possibly damaging	Het
Polr3e	A	G	7: 120,539,519 (GRCm39)		probably benign	Het
Rhbdd1	A	G	1: 82,318,555 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,707,702 (GRCm39)		probably benign	Het
Smarcal1	A	T	1: 72,655,679 (GRCm39)	K653*	probably null	Het
Stt3b	C	T	9: 115,105,767 (GRCm39)		probably null	Het
Syt8	C	A	7: 141,993,877 (GRCm39)	L343M	probably damaging	Het
Tbc1d23	G	A	16: 57,009,615 (GRCm39)		probably benign	Het
Tfec	T	C	6: 16,845,465 (GRCm39)	I65V	probably damaging	Het
Tmem236	A	T	2: 14,223,716 (GRCm39)	Q168H	probably benign	Het
Tmem25	G	A	9: 44,709,568 (GRCm39)	R78*	probably null	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Ttc1	G	A	11: 43,621,291 (GRCm39)		probably benign	Het
Tubb4b-ps1	A	C	5: 7,229,843 (GRCm39)		probably benign	Het
Tut1	T	C	19: 8,931,364 (GRCm39)	C21R	probably damaging	Het
Ubr4	C	A	4: 139,156,913 (GRCm39)	Q2313K	probably damaging	Het
Unc5b	T	C	10: 60,615,966 (GRCm39)	E119G	probably damaging	Het
Vmn1r23	T	A	6: 57,903,475 (GRCm39)	Q101L	probably damaging	Het
Vmn2r77	A	G	7: 86,450,678 (GRCm39)	D188G	probably benign	Het
Vmn2r79	A	G	7: 86,686,290 (GRCm39)	E557G	possibly damaging	Het
Zfp738	A	G	13: 67,818,096 (GRCm39)	F632L	possibly damaging	Het

Other mutations in Fam185a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Fam185a	APN	5	21,685,340 (GRCm39)	missense	probably damaging	1.00
IGL02096:Fam185a	APN	5	21,630,341 (GRCm39)	missense	probably damaging	1.00
IGL02264:Fam185a	APN	5	21,685,392 (GRCm39)	missense	possibly damaging	0.63
IGL02553:Fam185a	APN	5	21,634,839 (GRCm39)	splice site	probably benign
IGL02553:Fam185a	APN	5	21,660,829 (GRCm39)	missense	probably damaging	1.00
IGL03082:Fam185a	APN	5	21,660,836 (GRCm39)	missense	possibly damaging	0.49
famine	UTSW	5	21,630,452 (GRCm39)	missense	probably benign	0.00
R0389:Fam185a	UTSW	5	21,664,283 (GRCm39)	missense	probably damaging	0.99
R1872:Fam185a	UTSW	5	21,685,328 (GRCm39)	critical splice acceptor site	probably null
R1883:Fam185a	UTSW	5	21,630,242 (GRCm39)	missense	possibly damaging	0.85
R3775:Fam185a	UTSW	5	21,660,804 (GRCm39)	missense	probably damaging	1.00
R4190:Fam185a	UTSW	5	21,630,122 (GRCm39)	unclassified	probably benign
R4192:Fam185a	UTSW	5	21,630,122 (GRCm39)	unclassified	probably benign
R4194:Fam185a	UTSW	5	21,630,452 (GRCm39)	missense	probably benign	0.00
R4704:Fam185a	UTSW	5	21,685,471 (GRCm39)	utr 3 prime	probably benign
R4724:Fam185a	UTSW	5	21,660,785 (GRCm39)	missense	probably damaging	1.00
R4837:Fam185a	UTSW	5	21,685,375 (GRCm39)	missense	probably benign	0.00
R6225:Fam185a	UTSW	5	21,630,554 (GRCm39)	missense	probably damaging	0.99
R6438:Fam185a	UTSW	5	21,663,970 (GRCm39)	splice site	probably null
R6475:Fam185a	UTSW	5	21,630,281 (GRCm39)	missense	probably benign	0.01
R7512:Fam185a	UTSW	5	21,652,356 (GRCm39)	critical splice donor site	probably null
R8400:Fam185a	UTSW	5	21,643,814 (GRCm39)	missense	probably benign	0.14
R8690:Fam185a	UTSW	5	21,638,766 (GRCm39)	missense	probably benign	0.32
R9157:Fam185a	UTSW	5	21,660,837 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07