Mutagenetix > Incidental Mutations

Incidental Mutation 'R5187:Fam129a'

397936

Institutional Source

Beutler Lab

Gene Symbol

Fam129a

Ensembl Gene

ENSMUSG00000026483

Gene Name

family with sequence similarity 129, member A

Synonyms

Niban

MMRRC Submission

042766-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151571186-151721939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151703829 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 433 (L433Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115822 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000086267

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097541
AA Change: L433Q

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: L433Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148810
AA Change: L433Q

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: L433Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,718,809	L620*	probably null	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abcg5	A	G	17: 84,658,564	L628S	probably damaging	Het
Acbd3	C	T	1: 180,736,732	R201*	probably null	Het
Adsl	A	G	15: 80,948,905		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,698,803		probably benign	Het
Cachd1	T	C	4: 100,966,200	V483A	possibly damaging	Het
Calm1	T	C	12: 100,200,213	S19P	probably benign	Het
Casq1	T	C	1: 172,213,074	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,936	A64S	possibly damaging	Het
Ccdc114	A	G	7: 45,929,116	I77V	probably damaging	Het
Ccdc167	C	A	17: 29,705,511	A39S	possibly damaging	Het
Cd274	T	C	19: 29,382,536	L247P	probably benign	Het
Cdhr5	T	C	7: 141,274,448	E138G	probably damaging	Het
Cltb	C	T	13: 54,593,880	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,321,891	Q106K	possibly damaging	Het
Ctsh	T	C	9: 90,054,590	L14P	probably damaging	Het
Cubn	T	C	2: 13,287,568	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 87,026,948	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,562,128	I184T	probably damaging	Het
Ddx60	T	A	8: 61,974,188	W766R	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,172	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,463,964	N38K	probably benign	Het
Ermap	T	C	4: 119,185,818		probably null	Het
Fryl	A	G	5: 73,086,600	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,439,873	E76G	possibly damaging	Het
Grk6	T	C	13: 55,451,706	C169R	probably damaging	Het
Hmgn1	A	T	16: 96,122,427		probably null	Het
Lpcat2b	T	A	5: 107,434,135	Y443*	probably null	Het
Macf1	T	A	4: 123,472,089	M1395L	probably benign	Het
Mllt10	C	T	2: 18,208,774	Q997*	probably null	Het
Mocos	T	A	18: 24,692,554	V722E	probably damaging	Het
Moxd2	A	T	6: 40,879,337	L534M	probably benign	Het
Mphosph10	T	C	7: 64,385,820	M368V	possibly damaging	Het
Myo15	G	A	11: 60,503,614	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,701,674	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,437,911	L43H	probably damaging	Het
Nsl1	A	G	1: 191,075,190	N189D	probably benign	Het
Olfr558	A	T	7: 102,709,661	H134L	probably damaging	Het
Pcdh8	T	C	14: 79,770,154	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,209,224	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,562,893	E42D	probably damaging	Het
Rasal1	C	A	5: 120,675,395	H611Q	probably benign	Het
Rif1	T	A	2: 52,081,289	W260R	probably damaging	Het
Rpain	A	G	11: 70,973,832	D115G	probably benign	Het
Rpl3l	T	C	17: 24,732,455	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,772,452	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,917,650	V480A	probably benign	Het
Slc35a3	T	A	3: 116,681,145	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,042,978	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,237,365		probably null	Het
Sort1	T	A	3: 108,324,676	I172N	probably damaging	Het
Spink5	C	A	18: 43,989,451	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,209,606	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,597,020	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,734,641	D174G	probably benign	Het
Tmem42	T	C	9: 123,022,167	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,502,915	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,097,572	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,497,339	L14Q	probably null	Het
Xirp2	T	C	2: 67,515,367	S2651P	probably benign	Het
Zfp429	G	A	13: 67,390,840	L162F	probably damaging	Het
Zhx1	A	T	15: 58,052,423	M809K	probably damaging	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
R4447:Fam129a	UTSW	1	151636402	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCGGATAAAGTGGTCCAAGC -3'
(R):5'- CCTCACTTTCCTGAGCTGAAG -3'

Sequencing Primer
(F):5'- GCGTACACTTGATTGTTTCACAACAC -3'
(R):5'- GCTGAAGAGCACCATGGACAC -3'

Posted On

2016-07-06