Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Fam129a'

229831

Institutional Source

Beutler Lab

Gene Symbol

Fam129a

Ensembl Gene

ENSMUSG00000026483

Gene Name

family with sequence similarity 129, member A

Synonyms

Niban

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151571186-151721939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151709133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 494 (I494V)

Ref Sequence

ENSEMBL: ENSMUSP00000115822 (fasta)

Gene Model

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

AlphaFold

Q3UW53

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000086267

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097541
AA Change: I494V

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: I494V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148810
AA Change: I494V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: I494V

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,039,645 (GRCm38)	T255A	possibly damaging	Het
Acat3	C	T	17: 12,927,407 (GRCm38)	A230T	probably benign	Het
Acsl1	C	A	8: 46,533,626 (GRCm38)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,512,536 (GRCm38)	I316N	probably damaging	Het
Agrp	G	T	8: 105,566,835 (GRCm38)	T106K	probably damaging	Het
AI429214	T	A	8: 36,994,208 (GRCm38)	V170E	probably benign	Het
Akap13	G	A	7: 75,725,304 (GRCm38)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,350,368 (GRCm38)	Q190*	probably null	Het
Aox3	C	A	1: 58,158,216 (GRCm38)	Q574K	probably benign	Het
Apeh	A	G	9: 108,085,667 (GRCm38)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,737,485 (GRCm38)	I151T	probably benign	Het
Arhgap28	A	G	17: 67,869,015 (GRCm38)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,451,939 (GRCm38)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,347,317 (GRCm38)	S384P	probably benign	Het
Atl1	G	T	12: 69,931,657 (GRCm38)		probably null	Het
Atp13a2	A	T	4: 140,995,391 (GRCm38)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,333,214 (GRCm38)	N164K	probably benign	Het
Bnipl	T	A	3: 95,245,683 (GRCm38)	I162F	probably damaging	Het
Cacna1d	A	T	14: 30,123,163 (GRCm38)	L655I	probably damaging	Het
Canx	T	C	11: 50,304,358 (GRCm38)	I294M	probably damaging	Het
Casz1	T	C	4: 148,946,064 (GRCm38)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,472,383 (GRCm38)	Y121H	probably benign	Het
Cd4	A	C	6: 124,870,536 (GRCm38)	S222A	probably benign	Het
Cds1	T	C	5: 101,812,550 (GRCm38)	I289T	probably benign	Het
Cep112	T	C	11: 108,508,258 (GRCm38)	F328L	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Cfap44	A	T	16: 44,410,475 (GRCm38)	D273V	probably benign	Het
Clec7a	C	T	6: 129,470,955 (GRCm38)	G49D	probably benign	Het
Col22a1	G	A	15: 71,857,253 (GRCm38)	Q599*	probably null	Het
Col6a5	T	A	9: 105,945,600 (GRCm38)	H186L	unknown	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,724,458 (GRCm38)	R725*	probably null	Het
Dnajc10	G	A	2: 80,350,734 (GRCm38)		probably null	Het
Edem3	A	T	1: 151,794,731 (GRCm38)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,422,123 (GRCm38)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,848,771 (GRCm38)	V365I	probably damaging	Het
Fan1	T	C	7: 64,346,888 (GRCm38)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,599,248 (GRCm38)	V44M	probably benign	Het
Gaa	G	A	11: 119,270,282 (GRCm38)	W50*	probably null	Het
Gm10032	T	C	14: 66,792,778 (GRCm38)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,845,249 (GRCm38)		probably null	Het
Gprc5b	G	T	7: 118,984,175 (GRCm38)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,858,534 (GRCm38)	Q394*	probably null	Het
Gucd1	A	G	10: 75,512,088 (GRCm38)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,850,247 (GRCm38)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,544,549 (GRCm38)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,824,438 (GRCm38)	R337*	probably null	Het
Idua	T	A	5: 108,681,438 (GRCm38)	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,623,467 (GRCm38)	V218A	probably benign	Het
Ip6k1	G	A	9: 108,040,996 (GRCm38)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,187,640 (GRCm38)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,358,777 (GRCm38)		probably null	Het
Lasp1	T	A	11: 97,836,134 (GRCm38)	D227E	probably benign	Het
Lhx6	A	G	2: 36,091,324 (GRCm38)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,029,760 (GRCm38)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,603,963 (GRCm38)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 80,021,739 (GRCm38)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,785,709 (GRCm38)		probably null	Het
Lyg1	T	C	1: 37,950,674 (GRCm38)	Y44C	probably damaging	Het
Maats1	T	C	16: 38,341,762 (GRCm38)	T6A	probably benign	Het
Map1a	A	G	2: 121,298,641 (GRCm38)	I129V	probably damaging	Het
Med27	C	T	2: 29,524,430 (GRCm38)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,279,368 (GRCm38)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,810,742 (GRCm38)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,651,440 (GRCm38)		probably null	Het
Myo3a	A	G	2: 22,578,174 (GRCm38)	D480G	probably benign	Het
Neb	T	C	2: 52,310,638 (GRCm38)	Y343C	probably damaging	Het
Nrn1	A	C	13: 36,730,206 (GRCm38)	V34G	probably damaging	Het
Olfr1090	A	T	2: 86,754,452 (GRCm38)	N95K	probably benign	Het
Olfr1099	T	C	2: 86,959,098 (GRCm38)	Y120C	possibly damaging	Het
Olfr1302	A	G	2: 111,780,496 (GRCm38)	M59V	probably damaging	Het
Olfr679	A	G	7: 105,086,615 (GRCm38)	T300A	probably damaging	Het
Olfr690	C	T	7: 105,329,252 (GRCm38)	W313*	probably null	Het
Olfr722	A	G	14: 49,895,067 (GRCm38)	I245T	probably benign	Het
Olfr887	G	T	9: 38,085,276 (GRCm38)	V147L	probably benign	Het
Pdia4	A	T	6: 47,796,837 (GRCm38)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,278,545 (GRCm38)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,207,509 (GRCm38)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,754,096 (GRCm38)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm38)	Y341N	possibly damaging	Het
Plch2	T	C	4: 154,998,999 (GRCm38)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,815,182 (GRCm38)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rnf213	A	G	11: 119,450,201 (GRCm38)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,768,788 (GRCm38)		probably null	Het
Rpe	T	G	1: 66,715,980 (GRCm38)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,560,295 (GRCm38)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,752,079 (GRCm38)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,222,759 (GRCm38)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,295,934 (GRCm38)	M17L	probably benign	Het
Slit3	T	C	11: 35,688,679 (GRCm38)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,662,744 (GRCm38)	T193M	probably benign	Het
Smtn	T	A	11: 3,530,045 (GRCm38)	H392L	probably benign	Het
St8sia3	A	G	18: 64,269,674 (GRCm38)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,592,668 (GRCm38)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,836,923 (GRCm38)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,276,573 (GRCm38)	R528G	probably damaging	Het
Tex44	T	C	1: 86,427,089 (GRCm38)	L240P	probably benign	Het
Tns4	A	T	11: 99,080,078 (GRCm38)		probably null	Het
Trappc10	A	T	10: 78,203,924 (GRCm38)	V731E	possibly damaging	Het
Ttf1	A	G	2: 29,071,345 (GRCm38)	K582E	probably damaging	Het
Ttf2	C	A	3: 100,948,193 (GRCm38)	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,147,532 (GRCm38)	E402G	probably damaging	Het
Ttn	A	T	2: 76,890,092 (GRCm38)		probably null	Het
Ugt8a	T	C	3: 125,875,546 (GRCm38)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,792,436 (GRCm38)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,158,192 (GRCm38)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,316,074 (GRCm38)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,413,807 (GRCm38)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,186,975 (GRCm38)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,873,995 (GRCm38)	S203R	probably benign	Het
Zfp616	C	A	11: 74,085,403 (GRCm38)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,062,061 (GRCm38)	T279A	probably benign	Het
Zswim3	T	A	2: 164,819,993 (GRCm38)	I131N	probably benign	Het

Other mutations in Fam129a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Fam129a	APN	1	151,717,721 (GRCm38)	missense	probably benign	0.06
IGL01690:Fam129a	APN	1	151,703,804 (GRCm38)	missense	probably damaging	1.00
IGL01762:Fam129a	APN	1	151,636,491 (GRCm38)	missense	probably damaging	1.00
IGL01784:Fam129a	APN	1	151,649,365 (GRCm38)	missense	probably damaging	1.00
IGL01938:Fam129a	APN	1	151,689,614 (GRCm38)	missense	probably benign	0.22
IGL02427:Fam129a	APN	1	151,717,274 (GRCm38)	missense	probably damaging	1.00
IGL02617:Fam129a	APN	1	151,571,545 (GRCm38)	missense	probably benign	0.11
IGL02946:Fam129a	APN	1	151,649,425 (GRCm38)	missense	probably damaging	0.99
R0242:Fam129a	UTSW	1	151,718,216 (GRCm38)	missense	probably benign	0.00
R0242:Fam129a	UTSW	1	151,718,216 (GRCm38)	missense	probably benign	0.00
R0279:Fam129a	UTSW	1	151,709,206 (GRCm38)	critical splice donor site	probably null
R0421:Fam129a	UTSW	1	151,709,082 (GRCm38)	splice site	probably benign
R0531:Fam129a	UTSW	1	151,718,084 (GRCm38)	missense	probably benign	0.11
R0725:Fam129a	UTSW	1	151,706,015 (GRCm38)	missense	probably benign	0.04
R1493:Fam129a	UTSW	1	151,706,090 (GRCm38)	missense	probably damaging	1.00
R1563:Fam129a	UTSW	1	151,715,673 (GRCm38)	missense	possibly damaging	0.69
R1868:Fam129a	UTSW	1	151,641,551 (GRCm38)	missense	possibly damaging	0.71
R1944:Fam129a	UTSW	1	151,696,228 (GRCm38)	missense	probably damaging	0.99
R1945:Fam129a	UTSW	1	151,696,228 (GRCm38)	missense	probably damaging	0.99
R2071:Fam129a	UTSW	1	151,636,430 (GRCm38)	missense	probably damaging	1.00
R2126:Fam129a	UTSW	1	151,696,135 (GRCm38)	missense	probably damaging	1.00
R2138:Fam129a	UTSW	1	151,696,251 (GRCm38)	missense	probably damaging	0.98
R2180:Fam129a	UTSW	1	151,718,078 (GRCm38)	missense	probably benign	0.02
R2402:Fam129a	UTSW	1	151,689,614 (GRCm38)	missense	probably benign	0.22
R3689:Fam129a	UTSW	1	151,703,696 (GRCm38)	splice site	probably null
R3783:Fam129a	UTSW	1	151,689,648 (GRCm38)	missense	possibly damaging	0.66
R3975:Fam129a	UTSW	1	151,649,335 (GRCm38)	missense	probably damaging	1.00
R4029:Fam129a	UTSW	1	151,695,690 (GRCm38)	missense	probably benign	0.00
R4328:Fam129a	UTSW	1	151,636,418 (GRCm38)	missense	possibly damaging	0.86
R4447:Fam129a	UTSW	1	151,636,402 (GRCm38)	critical splice acceptor site	probably null
R4573:Fam129a	UTSW	1	151,703,766 (GRCm38)	missense	possibly damaging	0.85
R4774:Fam129a	UTSW	1	151,715,694 (GRCm38)	missense	probably damaging	1.00
R5064:Fam129a	UTSW	1	151,689,659 (GRCm38)	missense	probably benign	0.05
R5077:Fam129a	UTSW	1	151,714,523 (GRCm38)	missense	probably benign	0.00
R5187:Fam129a	UTSW	1	151,703,829 (GRCm38)	missense	possibly damaging	0.50
R5484:Fam129a	UTSW	1	151,718,086 (GRCm38)	missense	probably benign	0.08
R5553:Fam129a	UTSW	1	151,717,235 (GRCm38)	missense	probably damaging	0.99
R5572:Fam129a	UTSW	1	151,709,190 (GRCm38)	missense	probably benign	0.05
R5575:Fam129a	UTSW	1	151,718,240 (GRCm38)	missense	probably benign	0.31
R5586:Fam129a	UTSW	1	151,717,556 (GRCm38)	missense	probably benign	0.00
R5697:Fam129a	UTSW	1	151,700,261 (GRCm38)	missense	probably damaging	1.00
R6305:Fam129a	UTSW	1	151,695,718 (GRCm38)	missense	probably damaging	1.00
R7065:Fam129a	UTSW	1	151,700,107 (GRCm38)	critical splice acceptor site	probably null
R7126:Fam129a	UTSW	1	151,714,567 (GRCm38)	nonsense	probably null
R7392:Fam129a	UTSW	1	151,696,224 (GRCm38)	missense	probably damaging	1.00
R7571:Fam129a	UTSW	1	151,718,297 (GRCm38)	missense	probably benign	0.01
R7577:Fam129a	UTSW	1	151,718,312 (GRCm38)	missense	probably benign
R7939:Fam129a	UTSW	1	151,706,024 (GRCm38)	missense	probably damaging	1.00
R8018:Fam129a	UTSW	1	151,717,255 (GRCm38)	nonsense	probably null
R8164:Fam129a	UTSW	1	151,717,588 (GRCm38)	missense	probably benign	0.02
R8356:Fam129a	UTSW	1	151,696,150 (GRCm38)	missense	probably damaging	1.00
R8478:Fam129a	UTSW	1	151,636,512 (GRCm38)	missense	possibly damaging	0.77
R8833:Fam129a	UTSW	1	151,644,930 (GRCm38)	missense	probably damaging	1.00
R8847:Fam129a	UTSW	1	151,700,178 (GRCm38)	missense	probably damaging	1.00
R8854:Fam129a	UTSW	1	151,709,199 (GRCm38)	missense	probably damaging	1.00
R8960:Fam129a	UTSW	1	151,715,712 (GRCm38)	missense	possibly damaging	0.92
R9616:Fam129a	UTSW	1	151,636,442 (GRCm38)	missense	probably damaging	1.00
R9684:Fam129a	UTSW	1	151,717,787 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TCTCTGAGACCTGAGAGTCC -3'
(R):5'- TCAGAAGTTGGCTCCAGTCC -3'

Sequencing Primer
(F):5'- CCTGAGAGTCCTTAGAAATTAGTGG -3'
(R):5'- GATTTCCTGTAGTCCAGAAGTCAC -3'

Posted On

2014-09-17