Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Fam234b'

547918

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

045153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135173881-135213240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135205450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 472 (S472G)

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916]

AlphaFold

Q8BYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000111915
AA Change: S472G

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: S472G

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	521	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111916
AA Change: S472G

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: S472G

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	521	528	N/A	INTRINSIC

Meta Mutation Damage Score

0.0670

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Chrna5	C	T	9: 54,888,985 (GRCm39)		probably benign	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,682,120 (GRCm39)	E362G	probably benign	Het
Eed	A	T	7: 89,619,564 (GRCm39)	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Or4f60	T	C	2: 111,902,662 (GRCm39)	N89D	probably benign	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr70	T	A	15: 7,913,877 (GRCm39)	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	Het

Other mutations in Fam234b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Fam234b	APN	6	135,202,202 (GRCm39)	missense	probably damaging	1.00
IGL01020:Fam234b	APN	6	135,188,904 (GRCm39)	missense	probably benign	0.13
IGL01731:Fam234b	APN	6	135,188,903 (GRCm39)	missense	possibly damaging	0.90
IGL01994:Fam234b	APN	6	135,202,203 (GRCm39)	nonsense	probably null
IGL02010:Fam234b	APN	6	135,186,405 (GRCm39)	missense	probably benign	0.17
IGL02071:Fam234b	APN	6	135,204,149 (GRCm39)	critical splice acceptor site	probably null
IGL02340:Fam234b	APN	6	135,208,659 (GRCm39)	missense	probably damaging	1.00
IGL02869:Fam234b	APN	6	135,202,201 (GRCm39)	missense	probably damaging	1.00
R0076:Fam234b	UTSW	6	135,204,224 (GRCm39)	missense	probably benign	0.00
R0076:Fam234b	UTSW	6	135,204,224 (GRCm39)	missense	probably benign	0.00
R0123:Fam234b	UTSW	6	135,194,072 (GRCm39)	missense	possibly damaging	0.46
R0127:Fam234b	UTSW	6	135,195,821 (GRCm39)	splice site	probably benign
R0225:Fam234b	UTSW	6	135,194,072 (GRCm39)	missense	possibly damaging	0.46
R0570:Fam234b	UTSW	6	135,186,247 (GRCm39)	missense	probably benign	0.00
R0705:Fam234b	UTSW	6	135,204,213 (GRCm39)	missense	probably benign	0.11
R1140:Fam234b	UTSW	6	135,202,756 (GRCm39)	missense	probably benign	0.00
R1446:Fam234b	UTSW	6	135,186,328 (GRCm39)	splice site	probably null
R1464:Fam234b	UTSW	6	135,205,490 (GRCm39)	missense	probably benign	0.00
R1464:Fam234b	UTSW	6	135,205,490 (GRCm39)	missense	probably benign	0.00
R2044:Fam234b	UTSW	6	135,203,912 (GRCm39)	missense	probably benign	0.04
R2350:Fam234b	UTSW	6	135,208,722 (GRCm39)	missense	probably damaging	1.00
R3914:Fam234b	UTSW	6	135,202,681 (GRCm39)	missense	probably damaging	1.00
R4261:Fam234b	UTSW	6	135,186,134 (GRCm39)	missense	unknown
R5102:Fam234b	UTSW	6	135,186,282 (GRCm39)	missense	probably benign	0.03
R5133:Fam234b	UTSW	6	135,186,193 (GRCm39)	missense	probably benign	0.01
R5313:Fam234b	UTSW	6	135,186,185 (GRCm39)	missense	possibly damaging	0.56
R5375:Fam234b	UTSW	6	135,210,355 (GRCm39)	missense	probably damaging	1.00
R5418:Fam234b	UTSW	6	135,203,966 (GRCm39)	missense	probably benign	0.00
R5838:Fam234b	UTSW	6	135,202,265 (GRCm39)	missense	probably benign	0.00
R5953:Fam234b	UTSW	6	135,202,705 (GRCm39)	missense	possibly damaging	0.95
R6737:Fam234b	UTSW	6	135,205,513 (GRCm39)	missense	probably damaging	0.99
R7221:Fam234b	UTSW	6	135,205,529 (GRCm39)	missense	probably damaging	1.00
R7418:Fam234b	UTSW	6	135,194,009 (GRCm39)	missense	probably benign	0.04
R7459:Fam234b	UTSW	6	135,188,899 (GRCm39)	missense	probably benign	0.04
R7599:Fam234b	UTSW	6	135,203,874 (GRCm39)	missense	probably damaging	1.00
R7602:Fam234b	UTSW	6	135,202,241 (GRCm39)	missense	possibly damaging	0.79
R7639:Fam234b	UTSW	6	135,202,798 (GRCm39)	splice site	probably null
R7748:Fam234b	UTSW	6	135,186,349 (GRCm39)	missense	probably damaging	1.00
R7773:Fam234b	UTSW	6	135,220,912 (GRCm39)	missense	probably benign	0.01
R8544:Fam234b	UTSW	6	135,210,287 (GRCm39)	missense	probably damaging	1.00
R9324:Fam234b	UTSW	6	135,202,793 (GRCm39)	nonsense	probably null
R9733:Fam234b	UTSW	6	135,194,008 (GRCm39)	missense	possibly damaging	0.50
Z1177:Fam234b	UTSW	6	135,175,006 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACAATCAAAGCTAACCAACTGTG -3'
(R):5'- AACTGACACCTGCCTTCTGG -3'

Sequencing Primer
(F):5'- ACATCGCAGTAGTTCTTGCAG -3'
(R):5'- ACCTGCCTTCTGGGTGTCAAG -3'

Posted On

2019-05-13