Mutagenetix > Incidental Mutations

Incidental Mutation 'R4192:Fam205c'

318346

Institutional Source

Beutler Lab

Gene Symbol

Fam205c

Ensembl Gene

ENSMUSG00000050141

Gene Name

family with sequence similarity 205, member C

Synonyms

BC049635

MMRRC Submission

041023-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42868004-42874234 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to T at 42874185 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]

Predicted Effect

probably benign
Transcript: ENSMUST00000055944

SMART Domains

Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	51	139	2.7e-31	PFAM
internal_repeat_1	147	168	5.83e-10	PROSPERO
internal_repeat_1	180	201	5.83e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107978

SMART Domains

Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	138	3.4e-28	PFAM
internal_repeat_1	147	168	5.79e-10	PROSPERO
internal_repeat_1	180	201	5.79e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144112

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
Fam185a	T	A	5: 21,425,124		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 Fam205c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Fam205c	APN	4	42868564	missense	probably benign	0.40
IGL01697:Fam205c	APN	4	42874163	missense	probably benign
IGL02413:Fam205c	APN	4	42868549	missense	probably damaging	0.99
IGL02450:Fam205c	APN	4	42874127	missense	probably benign
R0433:Fam205c	UTSW	4	42874013	splice site	probably benign
R1580:Fam205c	UTSW	4	42874020	splice site	probably null
R2042:Fam205c	UTSW	4	42874030	missense	possibly damaging	0.96
R2102:Fam205c	UTSW	4	42868558	missense	probably benign	0.00
R3824:Fam205c	UTSW	4	42873492	critical splice donor site	probably null
R4668:Fam205c	UTSW	4	42871608	missense	probably benign	0.00
R4690:Fam205c	UTSW	4	42873032	splice site	probably null
R5743:Fam205c	UTSW	4	42873087	missense	probably damaging	0.99
R5868:Fam205c	UTSW	4	42871711	missense	probably damaging	0.96
R6186:Fam205c	UTSW	4	42872000	missense	possibly damaging	0.95
R6778:Fam205c	UTSW	4	42868522	missense	possibly damaging	0.94
R6986:Fam205c	UTSW	4	42868696	missense	possibly damaging	0.90
R7318:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7413:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7675:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7785:Fam205c	UTSW	4	42871823	small deletion	probably benign
R7842:Fam205c	UTSW	4	42871823	small deletion	probably benign
RF040:Fam205c	UTSW	4	42871823	small deletion	probably benign
X0052:Fam205c	UTSW	4	42874047	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CCTTAAACGACATGCTTAGGCC -3'
(R):5'- CCTCATCTGGACACCGAATC -3'

Sequencing Primer
(F):5'- TAAACGACATGCTTAGGCCTGGTC -3'
(R):5'- CGAATCACCACTTGAGTTTATCCAAG -3'

Posted On

2015-06-10