Mutagenetix > Incidental Mutations

Incidental Mutation 'R6184:BC048403'

488150

Institutional Source

Beutler Lab

Gene Symbol

BC048403

Ensembl Gene

ENSMUSG00000053684

Gene Name

cDNA sequence BC048403

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R6184 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121739937-121752878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121750905 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 375 (L375P)

Ref Sequence

ENSEMBL: ENSMUSP00000070834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065600] [ENSMUST00000136432]

PDB Structure

X-ray structure of a hypothetical protein from Mouse Mm.209172 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065600
AA Change: L375P

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

SMART Domains

Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: L375P

Domain	Start	End	E-Value	Type
Pfam:DUF2003	7	444	3.8e-252	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136432
AA Change: L239P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: L239P

Domain	Start	End	E-Value	Type
Pfam:DUF2003	1	309	1.1e-205	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138630

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,007,178	F106S	probably benign	Het
Adgrv1	A	T	13: 81,433,838	F4696I	probably benign	Het
Ank2	T	C	3: 126,962,398	I1073V	probably damaging	Het
Card11	A	T	5: 140,898,278	D415E	probably damaging	Het
Clec16a	G	A	16: 10,572,928		probably null	Het
Coro2a	T	C	4: 46,540,504	T472A	probably benign	Het
D130043K22Rik	T	A	13: 24,885,591	F878I	probably damaging	Het
D5Ertd579e	G	T	5: 36,629,783	D80E	probably damaging	Het
Ddrgk1	A	T	2: 130,664,561	V2E	possibly damaging	Het
Disp1	T	C	1: 183,086,332	H1508R	probably benign	Het
Dmtf1	T	C	5: 9,126,656	N344S	probably benign	Het
Eml5	A	G	12: 98,863,129	V503A	possibly damaging	Het
Fat1	A	G	8: 44,953,392	H1060R	probably benign	Het
Fbxw8	C	T	5: 118,113,749	R233Q	probably damaging	Het
Fer1l4	T	C	2: 156,048,291	K238R	probably damaging	Het
Flg	T	A	3: 93,280,050	S270T	probably benign	Het
Gm10801	TC	TCGCC	2: 98,663,806		probably benign	Het
Gm3604	A	T	13: 62,371,845	V32D	probably damaging	Het
Gnl2	T	G	4: 125,054,229		probably null	Het
Gpr162	A	G	6: 124,861,241	S149P	probably damaging	Het
Il2ra	T	A	2: 11,647,979		probably benign	Het
Kmt5b	T	A	19: 3,804,499	M254K	probably damaging	Het
Lrriq3	T	C	3: 155,129,402	I258T	probably benign	Het
Mbnl1	T	C	3: 60,615,744	L328S	probably damaging	Het
Mboat2	A	G	12: 24,951,431	D277G	possibly damaging	Het
Mug2	A	G	6: 122,037,046	I364V	probably benign	Het
Myh7	G	A	14: 54,988,858	R442C	probably damaging	Het
Nin	A	G	12: 70,043,737	L968P	probably damaging	Het
Olfr1137	A	T	2: 87,711,844	Y21N	probably benign	Het
Olfr355	T	C	2: 36,927,392	T241A	probably damaging	Het
Olfr968	T	G	9: 39,772,620	Y60S	probably damaging	Het
Per1	C	T	11: 69,102,904	P403S	probably damaging	Het
Ppip5k2	T	C	1: 97,734,005	I723V	possibly damaging	Het
Ptprg	A	G	14: 12,153,943	T555A	probably benign	Het
Rgsl1	C	T	1: 153,827,448	M187I	probably benign	Het
Sec31a	A	G	5: 100,369,594		probably null	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Stx1b	G	A	7: 127,807,905	T206I	possibly damaging	Het
Tsc22d4	T	A	5: 137,759,089	M35K	probably damaging	Het
Zc2hc1c	A	G	12: 85,296,444	K452E	probably damaging	Het
Zfp386	A	G	12: 116,060,513	N582S	possibly damaging	Het
Zfp457	A	G	13: 67,292,912	V437A	possibly damaging	Het
Zfp599	T	C	9: 22,249,651	Y406C	probably benign	Het
Zfyve26	G	A	12: 79,268,727	S1325F	probably damaging	Het

Other mutations in BC048403

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:BC048403	APN	10	121750770	missense	probably damaging	1.00
IGL02598:BC048403	APN	10	121739971	utr 5 prime	probably benign
IGL02747:BC048403	APN	10	121745550	missense	possibly damaging	0.94
R0381:BC048403	UTSW	10	121745375	missense	probably damaging	1.00
R0732:BC048403	UTSW	10	121750947	missense	possibly damaging	0.55
R2383:BC048403	UTSW	10	121750649	missense	possibly damaging	0.69
R4299:BC048403	UTSW	10	121745446	missense	probably benign	0.01
R4760:BC048403	UTSW	10	121740007	missense	probably damaging	1.00
R5595:BC048403	UTSW	10	121740147	start gained	probably benign
R6487:BC048403	UTSW	10	121745541	missense	probably damaging	1.00
R6977:BC048403	UTSW	10	121745466	missense	probably damaging	0.98
R7094:BC048403	UTSW	10	121740193	missense	possibly damaging	0.95
R7250:BC048403	UTSW	10	121745471	missense	possibly damaging	0.82
R8186:BC048403	UTSW	10	121745342	missense	possibly damaging	0.79
R8554:BC048403	UTSW	10	121740055	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAATACGACGCTGCCAACG -3'
(R):5'- CAGACTTGCAAACACTTTGGG -3'

Sequencing Primer
(F):5'- CTTAATTTTTGACAACCGGGGC -3'
(R):5'- CAAACACTTTGGGGTTCTTAAGGGC -3'

Posted On

2017-10-10