Mutagenetix > Incidental Mutation

Incidental Mutation 'R1404:Fam151b'

188669

Institutional Source

Beutler Lab

Gene Symbol

Fam151b

Ensembl Gene

ENSMUSG00000034334

Gene Name

family with sequence similarity 151, member B

Synonyms

4930405M20Rik

MMRRC Submission

039466-MU

Accession Numbers

NCBI RefSeq: NM_001163627.1; MGI:1921192

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92449625-92484015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92473972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 103 (D103G)

Ref Sequence

ENSEMBL: ENSMUSP00000045024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040106] [ENSMUST00000225299]

AlphaFold

D3YUE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040106
AA Change: D103G

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

SMART Domains

Protein: ENSMUSP00000045024
Gene: ENSMUSG00000034334
AA Change: D103G

Domain	Start	End	E-Value	Type
Pfam:DUF2181	29	263	2.3e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225299

Meta Mutation Damage Score

0.9185

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

100% (28/28)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253		probably benign	Het
Actl6a	T	C	3: 32,722,610		probably benign	Het
Aox2	T	C	1: 58,346,212		probably benign	Het
Arrdc3	A	G	13: 80,883,854	T69A	probably damaging	Het
Bbs2	T	C	8: 94,081,999	K360R	probably null	Het
Cdh8	A	T	8: 99,279,618	N112K	probably damaging	Het
Ces5a	A	T	8: 93,502,181	F474I	probably damaging	Het
Doxl2	A	T	6: 48,975,833	T231S	probably benign	Het
Dync1i1	G	A	6: 5,915,876	D253N	probably damaging	Het
Fam227b	A	G	2: 126,003,839	L410P	probably damaging	Het
Ihh	A	T	1: 74,951,213	M1K	probably null	Het
Itga6	A	G	2: 71,838,716	T617A	probably benign	Het
Itpr1	T	A	6: 108,386,648	C744S	probably benign	Het
Kif5a	T	C	10: 127,245,442	I208V	probably benign	Het
Lama4	A	G	10: 39,061,391	K659R	probably benign	Het
Lpin3	T	A	2: 160,892,390		probably null	Het
Macf1	T	A	4: 123,376,516	E6612V	probably damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Ncdn	T	C	4: 126,750,040	K330E	probably benign	Het
Neb	C	T	2: 52,183,275	D1975N	possibly damaging	Het
Nell1	T	A	7: 50,853,873	N675K	possibly damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,924,113		probably benign	Het
Olfr1317	G	A	2: 112,142,623	R226H	probably benign	Het
Rnf43	A	G	11: 87,734,177	E737G	possibly damaging	Het
Sardh	C	A	2: 27,239,461	W275L	probably damaging	Het
Sel1l2	C	T	2: 140,230,059		probably benign	Het
Sipa1l2	G	A	8: 125,449,973	H1185Y	probably damaging	Het
Skp2	G	A	15: 9,116,925	Q298*	probably null	Het
Spag16	G	A	1: 69,895,280		probably benign	Het
Spink14	A	G	18: 44,028,829		probably benign	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Stx12	T	A	4: 132,871,649	I43L	probably benign	Het
Tmc1	T	A	19: 20,816,184	I538F	possibly damaging	Het
Tollip	T	C	7: 141,884,555	M209V	probably benign	Het
Ttn	A	T	2: 76,812,968	S13202R	probably damaging	Het
Vmn2r60	T	A	7: 42,136,787	V338D	probably damaging	Het
Vwa8	T	C	14: 79,026,031	L767P	probably damaging	Het
Zfp202	C	T	9: 40,211,496	T518I	probably damaging	Het

Other mutations in Fam151b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Fam151b	APN	13	92477853	missense	probably damaging	1.00
IGL02253:Fam151b	APN	13	92477927	missense	probably damaging	1.00
IGL03084:Fam151b	APN	13	92468026	missense	probably damaging	0.97
IGL03130:Fam151b	APN	13	92450193	missense	probably benign	0.01
P0015:Fam151b	UTSW	13	92467944	critical splice donor site	probably null
R0067:Fam151b	UTSW	13	92473996	missense	probably benign	0.08
R0067:Fam151b	UTSW	13	92473996	missense	probably benign	0.08
R0348:Fam151b	UTSW	13	92450181	missense	probably benign	0.00
R1404:Fam151b	UTSW	13	92473972	missense	probably damaging	1.00
R1482:Fam151b	UTSW	13	92450166	missense	probably benign	0.03
R1837:Fam151b	UTSW	13	92474131	intron	probably benign
R1891:Fam151b	UTSW	13	92450170	missense	probably benign	0.00
R1957:Fam151b	UTSW	13	92477902	missense	probably damaging	1.00
R1957:Fam151b	UTSW	13	92477903	missense	probably damaging	1.00
R2175:Fam151b	UTSW	13	92477918	missense	probably damaging	0.99
R4583:Fam151b	UTSW	13	92468109	missense	probably damaging	1.00
R6762:Fam151b	UTSW	13	92468050	missense	possibly damaging	0.79
R8153:Fam151b	UTSW	13	92477902	missense	probably damaging	1.00
R8881:Fam151b	UTSW	13	92468122	missense	probably benign	0.00
R8950:Fam151b	UTSW	13	92474059	missense	probably damaging	1.00
R9497:Fam151b	UTSW	13	92474113	missense	probably damaging	0.99
X0021:Fam151b	UTSW	13	92450226	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGTCCTCAAGGAGCAATCTTAGCCA -3'
(R):5'- GGTAGGTGCTGCCCACATGATAGA -3'

Sequencing Primer
(F):5'- agtctccttttgctgcctg -3'
(R):5'- CCACATGATAGAGGCTGATGTCC -3'

Posted On

2014-05-09