Mutagenetix > Incidental Mutations

Incidental Mutation 'R5102:Fam234b'

392420

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

042690-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135209284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 97 (S97P)

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916] [ENSMUST00000130612] [ENSMUST00000151071]

AlphaFold

Q8BYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000111915
AA Change: S97P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: S97P

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: S97P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: S97P

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: ENSMUST00000130612

Predicted Effect

silent
Transcript: ENSMUST00000151071

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	A	G	5: 124,338,891	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778	R518C	probably damaging	Het
Apbb2	A	T	5: 66,312,249		probably null	Het
Arhgap45	C	T	10: 80,021,428	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986		probably benign	Het
Bmp4	T	C	14: 46,384,001	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702	S173P	probably damaging	Het
D3Ertd254e	G	A	3: 36,162,665	C55Y	possibly damaging	Het
D6Ertd527e	A	T	6: 87,111,811	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Dnajb5	G	A	4: 42,956,639	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970	N564K	probably damaging	Het
Fam53b	G	A	7: 132,715,955	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977	K244Q	probably benign	Het
Gm12800	T	C	4: 101,909,239	F40S	probably damaging	Het
Golim4	A	G	3: 75,903,272	I192T	possibly damaging	Het
Gpr1	A	G	1: 63,183,167	V303A	probably damaging	Het
Gprin1	T	C	13: 54,739,763	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123		probably null	Het
Hmgcs2	T	C	3: 98,280,470		probably benign	Het
Ide	T	A	19: 37,314,984	I271L	unknown	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423		probably null	Het
Lhx6	T	C	2: 36,094,210		probably null	Het
Lrp2	C	T	2: 69,489,158	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017		probably null	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
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
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
Z1177:Fam234b	UTSW	6	135198008	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATGATCTCGTGCTTAACTTGC -3'
(R):5'- GGGAAACTTGAGTGCACTAAC -3'

Sequencing Primer
(F):5'- CTCGTGCTTAACTTGCAGCAGAAG -3'
(R):5'- GGGAAACTTGAGTGCACTAACTTATG -3'

Posted On

2016-06-15