Mutagenetix > Incidental Mutations

Incidental Mutation 'R6364:Fam129c'

513418

Institutional Source

Beutler Lab

Gene Symbol

Fam129c

Ensembl Gene

ENSMUSG00000043243

Gene Name

family with sequence similarity 129, member C

Synonyms

Bcnp1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71597648-71607936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71599089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 23 (G23S)

Ref Sequence

ENSEMBL: ENSMUSP00000123432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000127626] [ENSMUST00000143441] [ENSMUST00000143662]

AlphaFold

D3YZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000034264

SMART Domains

Protein: ENSMUSP00000034264
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	18	217	2.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125525

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

probably benign
Transcript: ENSMUST00000138742

SMART Domains

Protein: ENSMUSP00000120113
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	7	174	7.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141594

Predicted Effect

probably benign
Transcript: ENSMUST00000143441

SMART Domains

Protein: ENSMUSP00000116524
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	12	134	3.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143662
AA Change: G23S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: G23S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npr2	T	A	4: 43,643,622	I550N	probably damaging	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,188,035	T90S	probably benign	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rdm1	G	A	11: 101,630,242	R94H	probably benign	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Srpk2	A	G	5: 23,540,467	F164L	probably damaging	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zcchc14	G	T	8: 121,604,859		probably benign	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	probably 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
IGL02313:Fam129c	APN	8	71602860	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGCTGCTGAGTAATCTCTCC -3'
(R):5'- AGACAACTACAGCTGGGTGC -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAGACTGGC -3'
(R):5'- TACAGCTGGGTGCCTGGC -3'

Posted On

2018-04-27