Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Fam129c'

287890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam129c

Ensembl Gene

ENSMUSG00000043243

Gene Name

family with sequence similarity 129, member C

Synonyms

Bcnp1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

71597648-71607936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71602860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 305 (R305G)

Ref Sequence

ENSEMBL: ENSMUSP00000123432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125339] [ENSMUST00000126559] [ENSMUST00000127626] [ENSMUST00000143662]

AlphaFold

D3YZB0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124485

Predicted Effect

probably benign
Transcript: ENSMUST00000125339

SMART Domains

Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	110	119	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125525

Predicted Effect

probably benign
Transcript: ENSMUST00000126559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127285

Predicted Effect

probably benign
Transcript: ENSMUST00000127626

SMART Domains

Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	18	214	7.2e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141594

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143662
AA Change: R305G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: R305G

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
PH	68	196	4.94e-4	SMART
low complexity region	218	230	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
low complexity region	437	448	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Fam129c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Fam129c	APN	8	71604863	splice site	probably benign
IGL01530:Fam129c	APN	8	71603917	splice site	probably benign
IGL01553:Fam129c	APN	8	71602902	missense	possibly damaging	0.86
IGL02341:Fam129c	APN	8	71603799	missense	possibly damaging	0.60
IGL02541:Fam129c	APN	8	71602782	missense	probably benign	0.07
IGL02745:Fam129c	APN	8	71605038	splice site	probably null
R0006:Fam129c	UTSW	8	71605044	splice site	probably benign
R0391:Fam129c	UTSW	8	71602499	splice site	probably benign
R0594:Fam129c	UTSW	8	71599135	missense	probably benign	0.07
R1208:Fam129c	UTSW	8	71600475	missense	probably damaging	0.99
R1208:Fam129c	UTSW	8	71600475	missense	probably damaging	0.99
R1643:Fam129c	UTSW	8	71600164	missense	probably benign	0.34
R1848:Fam129c	UTSW	8	71603769	missense	possibly damaging	0.95
R1986:Fam129c	UTSW	8	71603760	missense	possibly damaging	0.63
R2319:Fam129c	UTSW	8	71602764	missense	probably benign	0.00
R4386:Fam129c	UTSW	8	71607511	intron	probably benign
R4564:Fam129c	UTSW	8	71605060	intron	probably benign
R4666:Fam129c	UTSW	8	71603825	nonsense	probably null
R6341:Fam129c	UTSW	8	71600077	missense	probably damaging	1.00
R6364:Fam129c	UTSW	8	71599089	missense	probably benign	0.08
R6888:Fam129c	UTSW	8	71603739	missense	probably benign
R6890:Fam129c	UTSW	8	71605671	missense	probably damaging	1.00
R7383:Fam129c	UTSW	8	71603826	missense	possibly damaging	0.86
R7441:Fam129c	UTSW	8	71600164	missense	probably benign	0.34
R7459:Fam129c	UTSW	8	71605027	missense	possibly damaging	0.75
R7527:Fam129c	UTSW	8	71606698	missense	probably damaging	0.99
R7873:Fam129c	UTSW	8	71602248	missense	probably damaging	1.00
R8698:Fam129c	UTSW	8	71607515	missense	unknown
R8936:Fam129c	UTSW	8	71607663	utr 3 prime	probably benign
R9272:Fam129c	UTSW	8	71602876	missense	probably damaging	1.00

Posted On

2015-04-16