Mutagenetix > Incidental Mutation

Incidental Mutation 'R3775:Fam185a'

273544

Institutional Source

Beutler Lab

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 #

R3775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21629956-21687122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21660804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 273 (A273D)

Ref Sequence

ENSEMBL: ENSMUSP00000058333 (fasta)

Gene Model

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

AlphaFold

Q7TPD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000056045
AA Change: A273D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
AA Change: A273D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146056

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,986,387 (GRCm39)	E2557G	possibly damaging	Het
Arid1a	A	G	4: 133,414,075 (GRCm39)	S1248P	unknown	Het
C2cd3	T	C	7: 100,081,205 (GRCm39)	L1327S	probably damaging	Het
Ccnh	T	C	13: 85,354,243 (GRCm39)		probably benign	Het
Dcdc5	C	A	2: 106,202,738 (GRCm39)		noncoding transcript	Het
Eprs1	T	C	1: 185,105,205 (GRCm39)	F160S	probably damaging	Het
F9	A	G	X: 59,064,345 (GRCm39)	I190V	probably benign	Het
Fhod1	G	A	8: 106,058,270 (GRCm39)		probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Hipk2	T	C	6: 38,720,029 (GRCm39)	D534G	probably damaging	Het
Ints6l	T	C	X: 55,526,731 (GRCm39)	L220S	probably damaging	Het
Kat7	T	C	11: 95,182,357 (GRCm39)	T250A	probably benign	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mpp3	G	T	11: 101,914,193 (GRCm39)	S134*	probably null	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nlrp1b	T	C	11: 71,047,126 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,157,502 (GRCm39)	F271L	possibly damaging	Het
Nup160	G	T	2: 90,552,420 (GRCm39)	C1132F	probably benign	Het
Or13p3	C	T	4: 118,567,351 (GRCm39)	T249I	probably damaging	Het
Or1o2	T	A	17: 37,543,121 (GRCm39)	I47F	probably damaging	Het
Pcdhga5	A	G	18: 37,828,167 (GRCm39)	E205G	possibly damaging	Het
Pdgfc	A	G	3: 81,048,858 (GRCm39)	T89A	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Pgr15l	G	T	X: 96,120,747 (GRCm39)	R181M	probably damaging	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rnf112	A	T	11: 61,341,011 (GRCm39)		probably benign	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Slc25a19	A	G	11: 115,506,285 (GRCm39)	Y303H	probably damaging	Het
Sympk	T	C	7: 18,769,880 (GRCm39)	F186L	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn2r29	C	G	7: 7,243,011 (GRCm39)	D500H	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAACTCTGTTTTATTAGTTATCTGGG -3'
(R):5'- GAAAATCTGACCACCTGCCTC -3'

Sequencing Primer
(F):5'- ATGTCAAAGCAGGGCCT -3'
(R):5'- TGACCACCTGCCTCCCAAATATTC -3'

Posted On

2015-03-25