Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:Fam185a'

318348

Institutional Source

Beutler Lab

Gene Symbol

Fam185a

Ensembl Gene

ENSMUSG00000047221

Gene Name

family with sequence similarity 185, member A

Synonyms

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4192 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

21424958-21482124 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 21425124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000056045] [ENSMUST00000115245]

AlphaFold

Q7TPD2

Predicted Effect

probably benign
Transcript: ENSMUST00000030552

SMART Domains

Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056045

SMART Domains

Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115245

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
coiled coil region	438	477	N/A	INTRINSIC
coiled coil region	549	595	N/A	INTRINSIC
coiled coil region	617	663	N/A	INTRINSIC
coiled coil region	690	720	N/A	INTRINSIC
coiled coil region	770	793	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153301

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 36,096,579	R178L	possibly damaging	Het
Acot4	T	C	12: 84,043,174		probably benign	Het
Add3	C	A	19: 53,242,524	D543E	probably benign	Het
Angpt4	A	C	2: 151,943,318	D418A	probably benign	Het
Ano8	A	T	8: 71,483,292	V260D	probably damaging	Het
Cfh	C	T	1: 140,102,716	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,207,077	D182E	probably benign	Het
E330021D16Rik	T	C	6: 136,401,437	T132A	probably benign	Het
Epb42	G	T	2: 121,030,089		probably null	Het
Fam205c	A	T	4: 42,874,185		probably benign	Het
Fer1l6	A	G	15: 58,647,149	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,007,998	P210S	probably benign	Het
Gm8369	C	T	19: 11,502,232	P9S	probably damaging	Het
Il17ra	A	G	6: 120,481,511	D541G	probably damaging	Het
Ints4	T	G	7: 97,507,733	H337Q	probably damaging	Het
Itgam	A	G	7: 128,064,732	T44A	probably benign	Het
Lyst	C	A	13: 13,740,513	T3264N	probably damaging	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,407,377	F728I	probably damaging	Het
Nacad	T	C	11: 6,605,534	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003	Q25*	probably null	Het
Oca2	T	C	7: 56,297,249	F342S	probably damaging	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,585,229	L499Q	probably damaging	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Peak1	A	T	9: 56,258,741	N634K	probably damaging	Het
Pitpnm3	T	C	11: 72,051,959	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,925,470		probably benign	Het
Rcc1l	T	C	5: 134,155,809	T385A	probably benign	Het
Rrm2	T	C	12: 24,708,378	I11T	probably benign	Het
Scnn1b	A	G	7: 121,902,739	T207A	possibly damaging	Het
Syt12	T	A	19: 4,447,681		probably benign	Het
Tmprss6	A	T	15: 78,446,657		probably null	Het
Ttbk1	A	T	17: 46,479,247	C91S	probably damaging	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,215,827	I14R	probably damaging	Het

Other mutations in Fam185a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Fam185a	APN	5	21480342	missense	probably damaging	1.00
IGL01980:Fam185a	APN	5	21459173	missense	probably damaging	1.00
IGL02096:Fam185a	APN	5	21425343	missense	probably damaging	1.00
IGL02264:Fam185a	APN	5	21480394	missense	possibly damaging	0.63
IGL02553:Fam185a	APN	5	21455831	missense	probably damaging	1.00
IGL02553:Fam185a	APN	5	21429841	splice site	probably benign
IGL03082:Fam185a	APN	5	21455838	missense	possibly damaging	0.49
famine	UTSW	5	21425454	missense	probably benign	0.00
R0389:Fam185a	UTSW	5	21459285	missense	probably damaging	0.99
R1872:Fam185a	UTSW	5	21480330	critical splice acceptor site	probably null
R1883:Fam185a	UTSW	5	21425244	missense	possibly damaging	0.85
R3775:Fam185a	UTSW	5	21455806	missense	probably damaging	1.00
R4190:Fam185a	UTSW	5	21425124	unclassified	probably benign
R4194:Fam185a	UTSW	5	21425454	missense	probably benign	0.00
R4704:Fam185a	UTSW	5	21480473	utr 3 prime	probably benign
R4724:Fam185a	UTSW	5	21455787	missense	probably damaging	1.00
R4837:Fam185a	UTSW	5	21480377	missense	probably benign	0.00
R6225:Fam185a	UTSW	5	21425556	missense	probably damaging	0.99
R6438:Fam185a	UTSW	5	21458972	splice site	probably null
R6475:Fam185a	UTSW	5	21425283	missense	probably benign	0.01
R7512:Fam185a	UTSW	5	21447358	critical splice donor site	probably null
R8400:Fam185a	UTSW	5	21438816	missense	probably benign	0.14
R8690:Fam185a	UTSW	5	21433768	missense	probably benign	0.32
R9157:Fam185a	UTSW	5	21455839	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGTGACTTGTCCAGGTCAG -3'
(R):5'- ATACTTGACCTGCAGGCTG -3'

Sequencing Primer
(F):5'- CCAGGTCAGGGTTTCAACTAG -3'
(R):5'- TTGACCTGCAGGCTGTCCAG -3'

Posted On

2015-06-10