Mutagenetix > Incidental Mutation

Incidental Mutation 'R4194:Fam185a'

318475

Institutional Source

Beutler Lab

Gene Symbol

Fam185a

Ensembl Gene

ENSMUSG00000047221

Gene Name

family with sequence similarity 185, member A

Synonyms

MMRRC Submission

041025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4194 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

21629956-21687122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21630452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 96 (H96R)

Ref Sequence

ENSEMBL: ENSMUSP00000058333 (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
AA Change: H96R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
AA Change: H96R

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 85,972,245 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,647,115 (GRCm39)	V3142F	probably damaging	Het
Alms1	C	T	6: 85,654,972 (GRCm39)	Q3173*	probably null	Het
Ankrd26	A	G	6: 118,500,639 (GRCm39)	F944S	probably benign	Het
Arhgap11a	G	T	2: 113,672,339 (GRCm39)	H210N	probably benign	Het
Brca1	T	C	11: 101,416,113 (GRCm39)	N674D	probably benign	Het
Bud13	T	A	9: 46,209,793 (GRCm39)	V634E	probably damaging	Het
Capn13	C	T	17: 73,646,479 (GRCm39)	M311I	possibly damaging	Het
Cdyl2	T	C	8: 117,305,903 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,720,501 (GRCm39)		probably null	Het
Col6a5	C	G	9: 105,823,113 (GRCm39)	E81D	unknown	Het
Ctbs	C	A	3: 146,156,368 (GRCm39)	H38N	probably benign	Het
Ctnnd1	T	C	2: 84,434,045 (GRCm39)	D897G	possibly damaging	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Dnttip2	G	A	3: 122,074,410 (GRCm39)	E616K	probably damaging	Het
Epb41l5	A	T	1: 119,535,823 (GRCm39)	S348R	probably damaging	Het
Fbxo11	T	C	17: 88,316,536 (GRCm39)	D279G	possibly damaging	Het
Gm3952	C	A	8: 129,486,346 (GRCm39)	G1578V	probably damaging	Het
Grb7	T	A	11: 98,345,881 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,743,616 (GRCm39)	V537A	probably benign	Het
H2-Eb2	T	A	17: 34,552,300 (GRCm39)	N48K	probably benign	Het
Kank3	A	G	17: 34,041,237 (GRCm39)		probably benign	Het
Kifap3	T	C	1: 163,743,394 (GRCm39)	S792P	probably benign	Het
Klhl35	A	T	7: 99,123,058 (GRCm39)		probably null	Het
Lpxn	T	C	19: 12,810,599 (GRCm39)	F348L	probably damaging	Het
Mef2d	A	G	3: 88,065,610 (GRCm39)	Y114C	possibly damaging	Het
Mfap3	T	A	11: 57,420,529 (GRCm39)	L170H	probably damaging	Het
Mical1	C	G	10: 41,357,624 (GRCm39)	F410L	possibly damaging	Het
Mppe1	G	A	18: 67,361,139 (GRCm39)	S206F	probably benign	Het
Myo9b	C	T	8: 71,812,268 (GRCm39)	A2013V	possibly damaging	Het
Phactr3	T	C	2: 177,924,902 (GRCm39)	V243A	possibly damaging	Het
Ppp4r4	T	C	12: 103,524,704 (GRCm39)	L92P	probably damaging	Het
Prss59	A	T	6: 40,898,005 (GRCm39)	V226E	probably damaging	Het
Rap1gds1	C	T	3: 138,664,851 (GRCm39)	D236N	probably damaging	Het
Rnf8	T	C	17: 29,850,642 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,434 (GRCm39)		noncoding transcript	Het
Sfta2	T	C	17: 35,939,057 (GRCm39)		probably null	Het
Sipa1l2	T	A	8: 126,218,411 (GRCm39)	T309S	probably benign	Het
Sos1	T	C	17: 80,706,013 (GRCm39)	D1186G	probably benign	Het
Sptb	C	A	12: 76,659,784 (GRCm39)	V1039F	probably benign	Het
Sycp3	T	C	10: 88,299,237 (GRCm39)	V68A	probably benign	Het
Tas1r3	T	C	4: 155,947,442 (GRCm39)	E81G	probably damaging	Het
Ttc3	G	A	16: 94,223,136 (GRCm39)	R253H	probably damaging	Het
Ugt1a7c	A	G	1: 88,023,449 (GRCm39)	T203A	possibly damaging	Het
Vtcn1	A	T	3: 100,795,525 (GRCm39)	E164V	probably damaging	Het
Zan	T	C	5: 137,461,817 (GRCm39)	T1121A	unknown	Het
Zfp473	T	C	7: 44,381,676 (GRCm39)	I885V	probably benign	Het
Zfp990	A	T	4: 145,263,547 (GRCm39)		probably null	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
IGL01980:Fam185a	APN	5	21,664,171 (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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAAGGGAGAGCATGTTC -3'
(R):5'- CTCCTTAATTGGAAACCCAACG -3'

Sequencing Primer
(F):5'- ATCAGCGCCCGATGACTCTG -3'
(R):5'- TTAATTGGAAACCCAACGCTTAAAC -3'

Posted On

2015-06-10