Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:BC049715'

30688

Institutional Source

Beutler Lab

Gene Symbol

BC049715

Ensembl Gene

ENSMUSG00000047515

Gene Name

cDNA sequence BC049715

Synonyms

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136827626-136840662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136839996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 78 (H78L)

Ref Sequence

ENSEMBL: ENSMUSP00000145015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000068293] [ENSMUST00000111894] [ENSMUST00000163640] [ENSMUST00000203468] [ENSMUST00000203499] [ENSMUST00000204086]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052702
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: H78L

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.3e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068293

SMART Domains

Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298

Domain	Start	End	E-Value	Type
Pfam:DUF4533	14	221	1.9e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111894

SMART Domains

Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298

Domain	Start	End	E-Value	Type
Pfam:DUF4533	14	221	2.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163640
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: H78L

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203468

SMART Domains

Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298

Domain	Start	End	E-Value	Type
Pfam:DUF4533	14	221	2.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203499
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: H78L

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204086

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	Het

Other mutations in BC049715

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:BC049715	APN	6	136840095	missense	possibly damaging	0.80
IGL01834:BC049715	APN	6	136840491	missense	probably benign	0.26
R0330:BC049715	UTSW	6	136840037	missense	possibly damaging	0.95
R0419:BC049715	UTSW	6	136840145	missense	possibly damaging	0.71
R1437:BC049715	UTSW	6	136840092	missense	probably damaging	0.99
R1734:BC049715	UTSW	6	136840308	missense	probably damaging	1.00
R1737:BC049715	UTSW	6	136840308	missense	probably damaging	1.00
R1738:BC049715	UTSW	6	136840308	missense	probably damaging	1.00
R2264:BC049715	UTSW	6	136840436	nonsense	probably null
R3004:BC049715	UTSW	6	136839792	missense	possibly damaging	0.80
R3937:BC049715	UTSW	6	136840455	missense	possibly damaging	0.93
R3938:BC049715	UTSW	6	136840455	missense	possibly damaging	0.93
R4459:BC049715	UTSW	6	136840052	missense	probably damaging	0.99
R4806:BC049715	UTSW	6	136839929	missense	possibly damaging	0.93
R5086:BC049715	UTSW	6	136840431	missense	probably damaging	1.00
R6280:BC049715	UTSW	6	136840231	nonsense	probably null
R7383:BC049715	UTSW	6	136840455	missense	probably damaging	0.98
R7554:BC049715	UTSW	6	136840297	missense	probably damaging	0.99
R8055:BC049715	UTSW	6	136839915	missense	possibly damaging	0.95
R8768:BC049715	UTSW	6	136839981	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TGGCAGACAGTCAGGAGCGTTTAC -3'
(R):5'- ACCCATGATGGGGAACTGCATCAG -3'

Sequencing Primer
(F):5'- GACAGTCAGGAGCGTTTACTATCC -3'
(R):5'- GGGAACTGCATCAGGAGTG -3'

Posted On

2013-04-24