Mutagenetix > Incidental Mutations

Incidental Mutation 'R6011:Fam129b'

479739

Institutional Source

Beutler Lab

Gene Symbol

Fam129b

Ensembl Gene

ENSMUSG00000026796

Gene Name

family with sequence similarity 129, member B

Synonyms

9130404D14Rik

MMRRC Submission

043253-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R6011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32876114-32925254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32922865 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 482 (Y482H)

Ref Sequence

ENSEMBL: ENSMUSP00000028135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000028135] [ENSMUST00000113200]

Predicted Effect

probably benign
Transcript: ENSMUST00000028132

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000028135
AA Change: Y482H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: Y482H

Domain	Start	End	E-Value	Type
PH	69	194	1.81e-2	SMART
low complexity region	594	607	N/A	INTRINSIC
low complexity region	685	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113200

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154514

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,245,744	N533K	probably benign	Het
Adamts15	G	T	9: 30,902,786	H694Q	probably damaging	Het
Adcy5	T	C	16: 35,157,228	L377P	probably benign	Het
Add2	T	C	6: 86,098,625	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 95,427,283		probably benign	Het
Ankrd13d	A	G	19: 4,281,934	L39P	probably damaging	Het
Asic1	G	T	15: 99,699,079	A541S	probably benign	Het
Bpifb2	A	G	2: 153,889,576		probably null	Het
Catsper3	A	G	13: 55,786,492	I75M	probably damaging	Het
Ccser2	T	C	14: 36,879,575	E837G	probably benign	Het
Clasp2	C	T	9: 113,876,247	P557L	probably benign	Het
Clstn2	C	T	9: 97,456,526	R860Q	probably benign	Het
Cyp2c66	A	G	19: 39,141,936	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,801,274		probably null	Het
Disp2	G	A	2: 118,790,820	V678I	possibly damaging	Het
Dock4	T	C	12: 40,817,757		probably null	Het
Eml3	T	C	19: 8,939,107	Y688H	probably damaging	Het
Fam187a	A	G	11: 102,885,441	K24E	probably damaging	Het
Fhit	T	C	14: 9,870,068	K134E	probably benign	Het
Gm16485	A	T	9: 8,972,453		probably benign	Het
Gm5096	A	G	18: 87,756,539	E62G	probably damaging	Het
Gm5294	A	G	5: 138,821,619	*217W	probably null	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Gm9573	T	A	17: 35,622,182		probably benign	Het
Hmgxb3	G	A	18: 61,163,024	T304I	probably damaging	Het
Lgsn	A	G	1: 31,203,766	S310G	probably damaging	Het
Lman1l	A	T	9: 57,615,755	D140E	probably damaging	Het
Olfr1148	A	G	2: 87,833,915	N292S	probably damaging	Het
Olfr1290	C	A	2: 111,489,847	A104S	probably benign	Het
Olfr1505	G	A	19: 13,919,157	V46I	probably benign	Het
Olfr765	A	T	10: 129,046,639	H141Q	probably benign	Het
Olfr843	T	A	9: 19,248,511	E296V	probably damaging	Het
Pelo	A	G	13: 115,089,766	S52P	probably benign	Het
Prune2	A	G	19: 17,118,716	N528S	probably benign	Het
Rfc3	T	A	5: 151,643,719	I291L	probably damaging	Het
Rpl35	A	T	2: 39,004,801		probably null	Het
Sectm1b	C	T	11: 121,055,878	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,035,734	M241T	probably damaging	Het
Serpina1a	T	A	12: 103,857,469	D195V	probably damaging	Het
Sesn2	C	T	4: 132,499,397	V129M	probably damaging	Het
Slc4a1	A	C	11: 102,352,531	V758G	probably damaging	Het
Tmx4	A	T	2: 134,639,836	Y56N	probably damaging	Het
Traj50	T	C	14: 54,167,634		probably benign	Het
Trio	T	G	15: 27,735,545	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,286,443	G2417S	probably benign	Het
Usp32	T	C	11: 85,032,097	D665G	possibly damaging	Het

Other mutations in Fam129b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Fam129b	APN	2	32912471	missense	probably benign	0.04
IGL01072:Fam129b	APN	2	32912415	unclassified	probably benign
IGL01874:Fam129b	APN	2	32905767	critical splice acceptor site	probably null
IGL02302:Fam129b	APN	2	32921123	missense	probably benign
IGL02681:Fam129b	APN	2	32911390	missense	probably benign	0.05
IGL03126:Fam129b	APN	2	32876386	missense	possibly damaging	0.95
IGL03240:Fam129b	APN	2	32922097	missense	probably benign	0.00
R0125:Fam129b	UTSW	2	32923821	missense	probably benign	0.17
R0948:Fam129b	UTSW	2	32922860	missense	probably damaging	1.00
R1195:Fam129b	UTSW	2	32919803	missense	probably benign
R1195:Fam129b	UTSW	2	32919803	missense	probably benign
R1195:Fam129b	UTSW	2	32919803	missense	probably benign
R2130:Fam129b	UTSW	2	32923647	missense	probably benign	0.34
R2408:Fam129b	UTSW	2	32923470	missense	probably damaging	1.00
R4881:Fam129b	UTSW	2	32922578	nonsense	probably null
R5506:Fam129b	UTSW	2	32920982	missense	probably damaging	0.96
R5748:Fam129b	UTSW	2	32919569	missense	probably damaging	1.00
R5857:Fam129b	UTSW	2	32909908	missense	probably benign	0.28
R6088:Fam129b	UTSW	2	32923123	missense	probably damaging	1.00
R6720:Fam129b	UTSW	2	32905826	missense	probably damaging	1.00
R6763:Fam129b	UTSW	2	32911448	critical splice donor site	probably null
R6769:Fam129b	UTSW	2	32895654
R7296:Fam129b	UTSW	2	32922642	missense	possibly damaging	0.74
R7769:Fam129b	UTSW	2	32919832	missense	possibly damaging	0.93
R7888:Fam129b	UTSW	2	32922125	nonsense	probably null
R8282:Fam129b	UTSW	2	32919017	missense	probably benign	0.02
R8685:Fam129b	UTSW	2	32919089	missense	probably benign	0.03
R8729:Fam129b	UTSW	2	32909934	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGTGAGCCTGACTCCATTG -3'
(R):5'- TCAAAGATCAGCTCCTGGAAGC -3'

Sequencing Primer
(F):5'- AGCCTGACTCCATTGGGCTG -3'
(R):5'- TCCTGGAAGCGTGGCAG -3'

Posted On

2017-06-26