Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Fam234b'

17052

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135227226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 456 (M456V)

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: M456V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: M456V

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: M456V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: M456V

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

noncoding transcript
Transcript: ENSMUST00000151951

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685		probably benign	Het
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	Het

Other mutations in Fam234b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Fam234b	APN	6	135225204	missense	probably damaging	1.00
IGL01020:Fam234b	APN	6	135211906	missense	probably benign	0.13
IGL01731:Fam234b	APN	6	135211905	missense	possibly damaging	0.90
IGL01994:Fam234b	APN	6	135225205	nonsense	probably null
IGL02010:Fam234b	APN	6	135209407	missense	probably benign	0.17
IGL02071:Fam234b	APN	6	135227151	critical splice acceptor site	probably null
IGL02340:Fam234b	APN	6	135231661	missense	probably damaging	1.00
IGL02869:Fam234b	APN	6	135225203	missense	probably damaging	1.00
R0076:Fam234b	UTSW	6	135227226	missense	probably benign	0.00
R0123:Fam234b	UTSW	6	135217074	missense	possibly damaging	0.46
R0127:Fam234b	UTSW	6	135218823	splice site	probably benign
R0225:Fam234b	UTSW	6	135217074	missense	possibly damaging	0.46
R0570:Fam234b	UTSW	6	135209249	missense	probably benign	0.00
R0705:Fam234b	UTSW	6	135227215	missense	probably benign	0.11
R1140:Fam234b	UTSW	6	135225758	missense	probably benign	0.00
R1446:Fam234b	UTSW	6	135209330	splice site	probably null
R1464:Fam234b	UTSW	6	135228492	missense	probably benign	0.00
R1464:Fam234b	UTSW	6	135228492	missense	probably benign	0.00
R2044:Fam234b	UTSW	6	135226914	missense	probably benign	0.04
R2350:Fam234b	UTSW	6	135231724	missense	probably damaging	1.00
R3914:Fam234b	UTSW	6	135225683	missense	probably damaging	1.00
R4261:Fam234b	UTSW	6	135209136	missense	unknown
R5102:Fam234b	UTSW	6	135209284	missense	probably benign	0.03
R5133:Fam234b	UTSW	6	135209195	missense	probably benign	0.01
R5313:Fam234b	UTSW	6	135209187	missense	possibly damaging	0.56
R5375:Fam234b	UTSW	6	135233357	missense	probably damaging	1.00
R5418:Fam234b	UTSW	6	135226968	missense	probably benign	0.00
R5838:Fam234b	UTSW	6	135225267	missense	probably benign	0.00
R5953:Fam234b	UTSW	6	135225707	missense	possibly damaging	0.95
R6737:Fam234b	UTSW	6	135228515	missense	probably damaging	0.99
R7056:Fam234b	UTSW	6	135228452	missense	probably benign	0.32
R7221:Fam234b	UTSW	6	135228531	missense	probably damaging	1.00
R7418:Fam234b	UTSW	6	135217011	missense	probably benign	0.04
R7459:Fam234b	UTSW	6	135211901	missense	probably benign	0.04
R7599:Fam234b	UTSW	6	135226876	missense	probably damaging	1.00
R7602:Fam234b	UTSW	6	135225243	missense	possibly damaging	0.79
R7639:Fam234b	UTSW	6	135225800	splice site	probably null
R7748:Fam234b	UTSW	6	135209351	missense	probably damaging	1.00
R7773:Fam234b	UTSW	6	135243914	missense	probably benign	0.01
R8544:Fam234b	UTSW	6	135233289	missense	probably damaging	1.00
R9324:Fam234b	UTSW	6	135225795	nonsense	probably null
R9733:Fam234b	UTSW	6	135217010	missense	possibly damaging	0.50
Z1177:Fam234b	UTSW	6	135198008	unclassified	probably benign

Posted On

2013-01-20