Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Fam129b'

638233

Institutional Source

Beutler Lab

Gene Symbol

Fam129b

Ensembl Gene

ENSMUSG00000026796

Gene Name

family with sequence similarity 129, member B

Synonyms

9130404D14Rik

MMRRC Submission

067705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32876114-32925254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32919017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 205 (E205G)

Ref Sequence

ENSEMBL: ENSMUSP00000028135 (fasta)

Gene Model

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

AlphaFold

Q8R1F1

Predicted Effect

probably benign
Transcript: ENSMUST00000028135
AA Change: E205G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: E205G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,510,337 (GRCm38)	D173E	probably benign	Het
Ahctf1	T	C	1: 179,777,806 (GRCm38)	D721G	possibly damaging	Het
Allc	T	C	12: 28,557,357 (GRCm38)	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,323,041 (GRCm38)		probably benign	Het
Axl	C	T	7: 25,763,954 (GRCm38)	D633N	probably benign	Het
Brf2	G	T	8: 27,124,593 (GRCm38)	R30S		Het
Bsn	A	G	9: 108,107,691 (GRCm38)	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Ces1d	A	T	8: 93,186,112 (GRCm38)	S233T	possibly damaging	Het
Chst15	T	A	7: 132,270,150 (GRCm38)	H134L	probably benign	Het
Col14a1	A	G	15: 55,420,880 (GRCm38)	T846A	unknown	Het
Cwh43	A	T	5: 73,434,229 (GRCm38)	D555V	probably damaging	Het
Cyld	C	A	8: 88,705,415 (GRCm38)	P14T	probably benign	Het
Dctn1	G	A	6: 83,199,756 (GRCm38)	R1264H	possibly damaging	Het
Dkk3	T	A	7: 112,118,282 (GRCm38)	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,890,566 (GRCm38)	H22P	unknown	Het
Fabp4	T	A	3: 10,205,282 (GRCm38)	T103S	probably benign	Het
Fam43a	T	C	16: 30,601,288 (GRCm38)	L230P	probably damaging	Het
Fam46c	A	G	3: 100,473,011 (GRCm38)	V143A	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775 (GRCm38)		probably benign	Het
Fank1	T	A	7: 133,876,764 (GRCm38)	Y186N	probably damaging	Het
Fbxo8	G	A	8: 56,591,520 (GRCm38)	R286K	possibly damaging	Het
Fmnl2	G	A	2: 53,107,666 (GRCm38)		probably null	Het
Gli2	T	A	1: 118,837,971 (GRCm38)	S817C	probably damaging	Het
Gm10110	C	T	14: 89,898,241 (GRCm38)	V76M	noncoding transcript	Het
Gm13212	A	T	4: 145,622,977 (GRCm38)	D328V	possibly damaging	Het
Gm4981	T	G	10: 58,236,326 (GRCm38)	Q22P	possibly damaging	Het
Gstt2	C	G	10: 75,832,457 (GRCm38)	A155P	probably benign	Het
Ints9	T	A	14: 65,007,308 (GRCm38)	M213K	probably benign	Het
Jak1	G	A	4: 101,179,541 (GRCm38)	R301*	probably null	Het
Kdsr	T	C	1: 106,724,997 (GRCm38)	T302A	probably benign	Het
Khsrp	T	C	17: 57,024,123 (GRCm38)	E460G	probably damaging	Het
Larp1b	G	A	3: 41,036,810 (GRCm38)	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,191,489 (GRCm38)	K487R	probably damaging	Het
Nwd1	T	A	8: 72,704,952 (GRCm38)	S1193T	probably damaging	Het
Olfr1122	A	T	2: 87,388,508 (GRCm38)	T268S	probably benign	Het
Olfr195	T	A	16: 59,149,166 (GRCm38)	C105*	probably null	Het
Olfr921	G	A	9: 38,775,281 (GRCm38)	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,814,703 (GRCm38)	H636R	probably damaging	Het
Pdilt	A	G	7: 119,498,070 (GRCm38)	I266T	probably damaging	Het
Rell2	A	T	18: 37,957,612 (GRCm38)	Q114L	probably benign	Het
Rfc1	A	G	5: 65,268,946 (GRCm38)		probably null	Het
Rpia	T	C	6: 70,771,018 (GRCm38)	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,579,920 (GRCm38)		probably null	Het
Samd12	T	C	15: 53,860,249 (GRCm38)	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,098,689 (GRCm38)		probably null	Het
Slc6a3	T	A	13: 73,557,081 (GRCm38)	D230E	probably benign	Het
Sorbs1	G	C	19: 40,376,800 (GRCm38)	R180G	probably benign	Het
Synpo2l	A	G	14: 20,661,136 (GRCm38)	V472A	probably benign	Het
Taf6l	A	G	19: 8,773,350 (GRCm38)	I120T	possibly damaging	Het
Trappc11	T	C	8: 47,516,589 (GRCm38)	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,199,042 (GRCm38)	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,254,581 (GRCm38)	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,715,674 (GRCm38)	Y212*	probably null	Het
Vps54	T	A	11: 21,300,464 (GRCm38)		probably benign	Het
Zfp648	T	A	1: 154,204,789 (GRCm38)	H231Q	probably benign	Het
Zscan4d	T	A	7: 11,162,442 (GRCm38)	T334S	possibly damaging	Het
Zswim9	T	C	7: 13,261,610 (GRCm38)	M207V	probably benign	Het

Other mutations in Fam129b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Fam129b	APN	2	32,912,471 (GRCm38)	missense	probably benign	0.04
IGL01072:Fam129b	APN	2	32,912,415 (GRCm38)	unclassified	probably benign
IGL01874:Fam129b	APN	2	32,905,767 (GRCm38)	critical splice acceptor site	probably null
IGL02302:Fam129b	APN	2	32,921,123 (GRCm38)	missense	probably benign
IGL02681:Fam129b	APN	2	32,911,390 (GRCm38)	missense	probably benign	0.05
IGL03126:Fam129b	APN	2	32,876,386 (GRCm38)	missense	possibly damaging	0.95
IGL03240:Fam129b	APN	2	32,922,097 (GRCm38)	missense	probably benign	0.00
R0125:Fam129b	UTSW	2	32,923,821 (GRCm38)	missense	probably benign	0.17
R0948:Fam129b	UTSW	2	32,922,860 (GRCm38)	missense	probably damaging	1.00
R1195:Fam129b	UTSW	2	32,919,803 (GRCm38)	missense	probably benign
R1195:Fam129b	UTSW	2	32,919,803 (GRCm38)	missense	probably benign
R1195:Fam129b	UTSW	2	32,919,803 (GRCm38)	missense	probably benign
R2130:Fam129b	UTSW	2	32,923,647 (GRCm38)	missense	probably benign	0.34
R2408:Fam129b	UTSW	2	32,923,470 (GRCm38)	missense	probably damaging	1.00
R4881:Fam129b	UTSW	2	32,922,578 (GRCm38)	nonsense	probably null
R5506:Fam129b	UTSW	2	32,920,982 (GRCm38)	missense	probably damaging	0.96
R5748:Fam129b	UTSW	2	32,919,569 (GRCm38)	missense	probably damaging	1.00
R5857:Fam129b	UTSW	2	32,909,908 (GRCm38)	missense	probably benign	0.28
R6011:Fam129b	UTSW	2	32,922,865 (GRCm38)	missense	probably damaging	0.99
R6088:Fam129b	UTSW	2	32,923,123 (GRCm38)	missense	probably damaging	1.00
R6720:Fam129b	UTSW	2	32,905,826 (GRCm38)	missense	probably damaging	1.00
R6763:Fam129b	UTSW	2	32,911,448 (GRCm38)	critical splice donor site	probably null
R6769:Fam129b	UTSW	2	32,895,654 (GRCm38)
R7296:Fam129b	UTSW	2	32,922,642 (GRCm38)	missense	possibly damaging	0.74
R7769:Fam129b	UTSW	2	32,919,832 (GRCm38)	missense	possibly damaging	0.93
R7888:Fam129b	UTSW	2	32,922,125 (GRCm38)	nonsense	probably null
R8685:Fam129b	UTSW	2	32,919,089 (GRCm38)	missense	probably benign	0.03
R8729:Fam129b	UTSW	2	32,909,934 (GRCm38)	missense	probably damaging	1.00
R8878:Fam129b	UTSW	2	32,921,093 (GRCm38)	missense	probably benign	0.00
R8916:Fam129b	UTSW	2	32,921,094 (GRCm38)	missense	possibly damaging	0.47
R9676:Fam129b	UTSW	2	32,912,569 (GRCm38)	missense	probably benign	0.00
R9772:Fam129b	UTSW	2	32,905,856 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGATGGCTTTTCTCACC -3'
(R):5'- TAGAGCCCCACTTCTGATGC -3'

Sequencing Primer
(F):5'- TATCTTGGAGGACGAAGGAGATTC -3'
(R):5'- TCTGATGCAGCCTTACCCACTAAG -3'

Posted On

2020-07-28