Mutagenetix > Incidental Mutations

Incidental Mutation 'R4447:Fam129a'

328786

Institutional Source

Beutler Lab

Gene Symbol

Fam129a

Ensembl Gene

ENSMUSG00000026483

Gene Name

family with sequence similarity 129, member A

Synonyms

Niban

MMRRC Submission

041708-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151571186-151721939 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 151636402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097541] [ENSMUST00000111875] [ENSMUST00000111875] [ENSMUST00000134499] [ENSMUST00000134499] [ENSMUST00000148810]

AlphaFold

Q3UW53

Predicted Effect

probably benign
Transcript: ENSMUST00000097541

SMART Domains

Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483

Domain	Start	End	E-Value	Type
Blast:PH	70	197	2e-83	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000111875

SMART Domains

Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483

Domain	Start	End	E-Value	Type
Blast:PH	70	197	6e-86	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000111875

SMART Domains

Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483

Domain	Start	End	E-Value	Type
Blast:PH	70	197	6e-86	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000134499

SMART Domains

Protein: ENSMUSP00000115692
Gene: ENSMUSG00000026483

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	114	5e-3	SMART
Blast:PH	70	114	3e-23	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000134499

SMART Domains

Protein: ENSMUSP00000115692
Gene: ENSMUSG00000026483

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	114	5e-3	SMART
Blast:PH	70	114	3e-23	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000148810

SMART Domains

Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	118	1e-2	SMART
Blast:PH	70	197	1e-80	BLAST
low complexity region	540	549	N/A	INTRINSIC
low complexity region	699	714	N/A	INTRINSIC
low complexity region	784	797	N/A	INTRINSIC

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,198	T603A	probably benign	Het
3930402G23Rik	T	A	8: 10,926,129		noncoding transcript	Het
Acsf2	G	T	11: 94,569,359	P389Q	possibly damaging	Het
Aldh6a1	A	G	12: 84,439,709	V120A	possibly damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Ankar	A	G	1: 72,687,789	S415P	possibly damaging	Het
Ano3	A	T	2: 110,761,578		probably null	Het
Asic4	A	T	1: 75,470,370		probably benign	Het
Atp1a4	A	C	1: 172,234,431	I709S	probably damaging	Het
Cyp11b2	T	C	15: 74,855,563	I90V	probably benign	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Iqcm	T	C	8: 75,629,766	S176P	probably damaging	Het
Irf5	T	A	6: 29,535,942	D318E	probably damaging	Het
Map2k3	A	T	11: 60,947,171	S253C	probably damaging	Het
Mgst1	G	T	6: 138,141,664		probably benign	Het
Mipol1	G	T	12: 57,352,748		probably benign	Het
Olfr371	T	A	8: 85,231,366	Y290*	probably null	Het
Pomgnt1	G	T	4: 116,152,923	V161L	possibly damaging	Het
Rnpc3	T	C	3: 113,611,137		probably benign	Het
Rxfp1	C	T	3: 79,652,127		probably benign	Het
Scn5a	T	C	9: 119,550,627	D197G	probably damaging	Het
Thsd7a	G	A	6: 12,324,635	T1479I	probably damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Ubqln3	C	T	7: 104,142,814	R23Q	probably benign	Het
Vmn1r228	T	C	17: 20,777,107	I50V	probably damaging	Het
Wnk4	T	A	11: 101,268,451	S565T	possibly damaging	Het
Wwc2	A	G	8: 47,868,667	Y471H	unknown	Het
Zfp407	A	T	18: 84,562,694	V98D	possibly damaging	Het
Zfp598	T	A	17: 24,676,555	V73E	probably damaging	Het
Zscan29	T	A	2: 121,169,886		probably null	Het

Other mutations in Fam129a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Fam129a	APN	1	151717721	missense	probably benign	0.06
IGL01690:Fam129a	APN	1	151703804	missense	probably damaging	1.00
IGL01762:Fam129a	APN	1	151636491	missense	probably damaging	1.00
IGL01784:Fam129a	APN	1	151649365	missense	probably damaging	1.00
IGL01938:Fam129a	APN	1	151689614	missense	probably benign	0.22
IGL02427:Fam129a	APN	1	151717274	missense	probably damaging	1.00
IGL02617:Fam129a	APN	1	151571545	missense	probably benign	0.11
IGL02946:Fam129a	APN	1	151649425	missense	probably damaging	0.99
R0242:Fam129a	UTSW	1	151718216	missense	probably benign	0.00
R0242:Fam129a	UTSW	1	151718216	missense	probably benign	0.00
R0279:Fam129a	UTSW	1	151709206	critical splice donor site	probably null
R0421:Fam129a	UTSW	1	151709082	splice site	probably benign
R0531:Fam129a	UTSW	1	151718084	missense	probably benign	0.11
R0725:Fam129a	UTSW	1	151706015	missense	probably benign	0.04
R1493:Fam129a	UTSW	1	151706090	missense	probably damaging	1.00
R1563:Fam129a	UTSW	1	151715673	missense	possibly damaging	0.69
R1868:Fam129a	UTSW	1	151641551	missense	possibly damaging	0.71
R1944:Fam129a	UTSW	1	151696228	missense	probably damaging	0.99
R1945:Fam129a	UTSW	1	151696228	missense	probably damaging	0.99
R2071:Fam129a	UTSW	1	151636430	missense	probably damaging	1.00
R2126:Fam129a	UTSW	1	151696135	missense	probably damaging	1.00
R2126:Fam129a	UTSW	1	151709133	missense	possibly damaging	0.94
R2138:Fam129a	UTSW	1	151696251	missense	probably damaging	0.98
R2180:Fam129a	UTSW	1	151718078	missense	probably benign	0.02
R2402:Fam129a	UTSW	1	151689614	missense	probably benign	0.22
R3689:Fam129a	UTSW	1	151703696	splice site	probably null
R3783:Fam129a	UTSW	1	151689648	missense	possibly damaging	0.66
R3975:Fam129a	UTSW	1	151649335	missense	probably damaging	1.00
R4029:Fam129a	UTSW	1	151695690	missense	probably benign	0.00
R4328:Fam129a	UTSW	1	151636418	missense	possibly damaging	0.86
R4573:Fam129a	UTSW	1	151703766	missense	possibly damaging	0.85
R4774:Fam129a	UTSW	1	151715694	missense	probably damaging	1.00
R5064:Fam129a	UTSW	1	151689659	missense	probably benign	0.05
R5077:Fam129a	UTSW	1	151714523	missense	probably benign	0.00
R5187:Fam129a	UTSW	1	151703829	missense	possibly damaging	0.50
R5484:Fam129a	UTSW	1	151718086	missense	probably benign	0.08
R5553:Fam129a	UTSW	1	151717235	missense	probably damaging	0.99
R5572:Fam129a	UTSW	1	151709190	missense	probably benign	0.05
R5575:Fam129a	UTSW	1	151718240	missense	probably benign	0.31
R5586:Fam129a	UTSW	1	151717556	missense	probably benign	0.00
R5697:Fam129a	UTSW	1	151700261	missense	probably damaging	1.00
R6305:Fam129a	UTSW	1	151695718	missense	probably damaging	1.00
R7065:Fam129a	UTSW	1	151700107	critical splice acceptor site	probably null
R7126:Fam129a	UTSW	1	151714567	nonsense	probably null
R7392:Fam129a	UTSW	1	151696224	missense	probably damaging	1.00
R7571:Fam129a	UTSW	1	151718297	missense	probably benign	0.01
R7577:Fam129a	UTSW	1	151718312	missense	probably benign
R7939:Fam129a	UTSW	1	151706024	missense	probably damaging	1.00
R8018:Fam129a	UTSW	1	151717255	nonsense	probably null
R8164:Fam129a	UTSW	1	151717588	missense	probably benign	0.02
R8356:Fam129a	UTSW	1	151696150	missense	probably damaging	1.00
R8478:Fam129a	UTSW	1	151636512	missense	possibly damaging	0.77
R8833:Fam129a	UTSW	1	151644930	missense	probably damaging	1.00
R8847:Fam129a	UTSW	1	151700178	missense	probably damaging	1.00
R8854:Fam129a	UTSW	1	151709199	missense	probably damaging	1.00
R8960:Fam129a	UTSW	1	151715712	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGAAAGACTCCTCCTCCTCCTG -3'
(R):5'- TCTGGCAAGAGAACGATGTAAGTC -3'

Sequencing Primer
(F):5'- CTCCTGACTGGTCCTTGGG -3'
(R):5'- TCGAGTGCTCAAGAGTCACCTTG -3'

Posted On

2015-07-21