Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Fam129b'

529522

Institutional Source

Beutler Lab

Gene Symbol

Fam129b

Ensembl Gene

ENSMUSG00000026796

Gene Name

family with sequence similarity 129, member B

Synonyms

9130404D14Rik

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

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

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32876114-32925254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32905826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 22 (V22D)

Ref Sequence

ENSEMBL: ENSMUSP00000114232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028135] [ENSMUST00000138781]

AlphaFold

Q8R1F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028135
AA Change: V38D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: V38D

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 damaging
Transcript: ENSMUST00000138781
AA Change: V22D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114232
Gene: ENSMUSG00000026796
AA Change: V22D

Domain	Start	End	E-Value	Type
Blast:PH	53	83	2e-15	BLAST

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686 (GRCm38)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm38)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222 (GRCm38)		probably null	Het
Baz2b	G	T	2: 59,924,890 (GRCm38)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609 (GRCm38)	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869 (GRCm38)	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119 (GRCm38)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548 (GRCm38)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516 (GRCm38)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm38)		probably null	Het
Cox15	A	G	19: 43,736,789 (GRCm38)	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200 (GRCm38)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689 (GRCm38)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646 (GRCm38)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959 (GRCm38)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264 (GRCm38)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623 (GRCm38)	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,657,502 (GRCm38)	D866G	probably damaging	Het
Farsb	A	G	1: 78,472,497 (GRCm38)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720 (GRCm38)	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832 (GRCm38)	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576 (GRCm38)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304 (GRCm38)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678 (GRCm38)	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135 (GRCm38)	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381 (GRCm38)	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284 (GRCm38)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987 (GRCm38)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347 (GRCm38)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506 (GRCm38)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610 (GRCm38)	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072 (GRCm38)		probably null	Het
Mmp15	A	G	8: 95,365,314 (GRCm38)	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077 (GRCm38)	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065 (GRCm38)	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693 (GRCm38)	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465 (GRCm38)	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153 (GRCm38)	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470 (GRCm38)	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979 (GRCm38)	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069 (GRCm38)	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389 (GRCm38)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052 (GRCm38)		probably null	Het
Plekha4	A	T	7: 45,540,886 (GRCm38)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062 (GRCm38)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108 (GRCm38)	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710 (GRCm38)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432 (GRCm38)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927 (GRCm38)	V165D	possibly damaging	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
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
R8282:Fam129b	UTSW	2	32,919,017 (GRCm38)	missense	probably benign	0.02
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'- AGAATAAGGTGACCAGCCCC -3'
(R):5'- TGGGGTGGTTATCCTCAACC -3'

Sequencing Primer
(F):5'- CAGCCCCGGTTTGTGTGAAAG -3'
(R):5'- GTGGTTATCCTCAACCTATGAAGGC -3'

Posted On

2018-08-01