Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Fam205c'

104302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam205c

Ensembl Gene

ENSMUSG00000050141

Gene Name

family with sequence similarity 205, member C

Synonyms

BC049635

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

42868004-42874234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42874163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 2 (M2L)

Ref Sequence

ENSEMBL: ENSMUSP00000103612 (fasta)

Gene Model

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

AlphaFold

Q80YD3

Predicted Effect

probably benign
Transcript: ENSMUST00000055944
AA Change: M2L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141
AA Change: M2L

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
AA Change: M2L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141
AA Change: M2L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,119,156		probably benign	Het
Arid2	A	C	15: 96,361,572		probably null	Het
Cadm1	C	A	9: 47,850,324	D435E	probably damaging	Het
Dagla	A	G	19: 10,271,198	F33L	probably benign	Het
Edrf1	A	G	7: 133,643,730	H199R	probably benign	Het
F5	T	A	1: 164,194,052	N1365K	probably benign	Het
Gipc2	T	G	3: 152,137,608	I131L	probably benign	Het
Gpc1	C	T	1: 92,858,410	S507F	possibly damaging	Het
Grid1	A	G	14: 35,309,257	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,366,953	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,559,565	C252S	probably damaging	Het
Mast4	A	C	13: 102,767,893	N645K	probably damaging	Het
Megf9	T	A	4: 70,433,472	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,976,493	D586G	possibly damaging	Het
Ninl	A	T	2: 150,939,947	L1206Q	probably damaging	Het
Olfr1446	T	A	19: 12,890,467	T37S	probably benign	Het
Olfr45	T	C	7: 140,691,652	V249A	possibly damaging	Het
Olfr765	C	A	10: 129,046,502	C187F	probably damaging	Het
Oog2	T	A	4: 144,195,184	N221K	possibly damaging	Het
Pik3ap1	G	A	19: 41,324,579	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,220,464	E181G	probably benign	Het
Scaf11	A	C	15: 96,423,623		probably benign	Het
Skint7	T	A	4: 111,980,457		probably benign	Het
Sox14	T	C	9: 99,875,663	I8V	probably benign	Het
Stim1	A	T	7: 102,425,969		probably benign	Het
Ttc37	C	T	13: 76,128,733	L479F	probably benign	Het
Ttll3	T	C	6: 113,399,729	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,893,689	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,467,419		probably benign	Het

Other mutations in Fam205c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Fam205c	APN	4	42868564	missense	probably benign	0.40
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
R4192:Fam205c	UTSW	4	42874185	utr 5 prime	probably benign
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
R8125:Fam205c	UTSW	4	42873051	missense	probably damaging	0.99
R8808:Fam205c	UTSW	4	42871823	small deletion	probably benign
R8954:Fam205c	UTSW	4	42871753	missense	probably damaging	0.98
R9343:Fam205c	UTSW	4	42871823	small deletion	probably benign
R9620: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

Posted On

2014-01-21