Mutagenetix > Incidental Mutation

Incidental Mutation 'R7554:BC049715'

584612

Institutional Source

Beutler Lab

Gene Symbol

BC049715

Ensembl Gene

ENSMUSG00000047515

Gene Name

cDNA sequence BC049715

Synonyms

MMRRC Submission

045651-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136804624-136817660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 136817295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 178 (S178R)

Ref Sequence

ENSEMBL: ENSMUSP00000049512 (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 damaging
Transcript: ENSMUST00000052702
AA Change: S178R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: S178R

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 damaging
Transcript: ENSMUST00000163640
AA Change: S178R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: S178R

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 damaging
Transcript: ENSMUST00000203499
AA Change: S178R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: S178R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204086

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,686 (GRCm39)	F185I	probably damaging	Het
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Acot5	T	A	12: 84,120,254 (GRCm39)	L203H	probably damaging	Het
Alad	C	T	4: 62,430,023 (GRCm39)		probably null	Het
Alkbh5	C	T	11: 60,429,415 (GRCm39)	T56I	probably benign	Het
Apbb1ip	G	A	2: 22,713,558 (GRCm39)	D138N	unknown	Het
C1rb	C	A	6: 124,557,365 (GRCm39)	H501N	probably damaging	Het
Celsr3	A	T	9: 108,718,408 (GRCm39)	M2327L	probably benign	Het
Cers4	G	A	8: 4,565,718 (GRCm39)	V55I	probably benign	Het
Cngb3	A	T	4: 19,461,753 (GRCm39)	K545*	probably null	Het
Crb1	C	T	1: 139,265,019 (GRCm39)	C133Y	probably damaging	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Cyp7b1	C	T	3: 18,151,610 (GRCm39)	G201D	probably benign	Het
Dcun1d2	A	T	8: 13,331,077 (GRCm39)	C18S	probably benign	Het
Ddx39b	A	T	17: 35,466,006 (GRCm39)	I176F	probably benign	Het
Dnah7a	A	G	1: 53,567,857 (GRCm39)	I1913T	possibly damaging	Het
Eif2ak1	T	C	5: 143,816,296 (GRCm39)	I198T	probably damaging	Het
Esp34	G	A	17: 38,866,782 (GRCm39)	M75I	probably benign	Het
Fam98a	G	T	17: 75,854,670 (GRCm39)	C46*	probably null	Het
Fanci	A	T	7: 79,062,500 (GRCm39)	N342I	probably damaging	Het
Fat1	A	T	8: 45,490,202 (GRCm39)	I3705F	possibly damaging	Het
Fbxw7	T	A	3: 84,883,620 (GRCm39)	V598D		Het
Gas2l2	G	A	11: 83,315,236 (GRCm39)	Q306*	probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gigyf2	T	A	1: 87,335,292 (GRCm39)	S378T	unknown	Het
Hao1	C	T	2: 134,372,538 (GRCm39)	V157M	possibly damaging	Het
Hdlbp	C	T	1: 93,365,031 (GRCm39)	V79M	probably damaging	Het
Htt	G	A	5: 35,022,084 (GRCm39)	R1676H	probably damaging	Het
Ift56	T	A	6: 38,362,435 (GRCm39)	L70Q	probably null	Het
Klhl11	A	G	11: 100,354,774 (GRCm39)	V349A	probably benign	Het
Lama2	T	C	10: 27,031,492 (GRCm39)	E1522G	probably damaging	Het
Map3k4	T	A	17: 12,451,300 (GRCm39)	K1531M	probably damaging	Het
Map3k4	T	A	17: 12,451,301 (GRCm39)	K1531*	probably null	Het
Mapk15	A	G	15: 75,867,745 (GRCm39)	Y120C	possibly damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mgat4d	A	C	8: 84,082,402 (GRCm39)	K117N	probably benign	Het
Mid1	G	T	X: 168,769,010 (GRCm39)	S468I	possibly damaging	Het
Mmp8	T	C	9: 7,563,112 (GRCm39)	L225P	probably damaging	Het
Mrps31	A	G	8: 22,911,445 (GRCm39)	K229R	possibly damaging	Het
Muc5b	A	T	7: 141,412,513 (GRCm39)	T1820S	unknown	Het
Myof	T	C	19: 37,942,958 (GRCm39)	T707A	probably benign	Het
Nckap5l	A	T	15: 99,327,261 (GRCm39)	S143T	probably benign	Het
Notch3	A	G	17: 32,341,345 (GRCm39)	S2136P	probably benign	Het
Nphp3	A	T	9: 103,919,270 (GRCm39)	D1306V	probably damaging	Het
Or10ag56	T	A	2: 87,139,349 (GRCm39)	M92K	probably damaging	Het
Or1e1b-ps1	C	T	11: 73,845,630 (GRCm39)	T38I	probably damaging	Het
Or2at1	T	A	7: 99,417,210 (GRCm39)	N280K	possibly damaging	Het
Or52n1	T	C	7: 104,383,074 (GRCm39)	I166V	probably benign	Het
Or56b1	T	C	7: 104,285,733 (GRCm39)	M284T	probably benign	Het
Or5k15	T	C	16: 58,709,769 (GRCm39)	I271M	probably benign	Het
Pabpc4l	T	A	3: 46,401,549 (GRCm39)	T32S	probably benign	Het
Pcdhb10	A	C	18: 37,544,935 (GRCm39)	T4P	probably benign	Het
Pkhd1l1	A	G	15: 44,358,866 (GRCm39)	I358M	probably damaging	Het
Plekhg1	A	G	10: 3,913,647 (GRCm39)	E1178G		Het
Prkcd	A	T	14: 30,331,220 (GRCm39)	Y52N	probably damaging	Het
Rasa3	G	A	8: 13,645,390 (GRCm39)	T183M	probably damaging	Het
Rbm26	G	T	14: 105,398,029 (GRCm39)	A31D	unknown	Het
Scara3	T	C	14: 66,158,299 (GRCm39)	T570A	possibly damaging	Het
Sec24d	T	A	3: 123,149,423 (GRCm39)	V810D	probably damaging	Het
Sgcz	A	T	8: 38,030,426 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,109,477 (GRCm39)		probably null	Het
Synpo	G	T	18: 60,736,405 (GRCm39)	Q514K	probably benign	Het
Tagln2	G	T	1: 172,333,411 (GRCm39)	K88N	probably damaging	Het
Tcaf1	T	A	6: 42,654,388 (GRCm39)	K601N	probably benign	Het
Tent4a	G	T	13: 69,648,191 (GRCm39)	H734Q	probably damaging	Het
Tprn	T	C	2: 25,153,811 (GRCm39)	F371S	probably damaging	Het
Ttn	A	T	2: 76,671,652 (GRCm39)	V11304E	unknown	Het
Ttn	C	T	2: 76,706,207 (GRCm39)	W9171*	probably null	Het
Vmn2r50	A	T	7: 9,784,066 (GRCm39)	M136K	probably null	Het
Zfp518b	G	A	5: 38,830,415 (GRCm39)	P530L	probably damaging	Het
Zfp941	C	A	7: 140,391,970 (GRCm39)	S463I	possibly damaging	Het

Other mutations in BC049715

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:BC049715	APN	6	136,817,093 (GRCm39)	missense	possibly damaging	0.80
IGL01834:BC049715	APN	6	136,817,489 (GRCm39)	missense	probably benign	0.26
R0330:BC049715	UTSW	6	136,817,035 (GRCm39)	missense	possibly damaging	0.95
R0375:BC049715	UTSW	6	136,816,994 (GRCm39)	missense	probably benign	0.12
R0419:BC049715	UTSW	6	136,817,143 (GRCm39)	missense	possibly damaging	0.71
R1437:BC049715	UTSW	6	136,817,090 (GRCm39)	missense	probably damaging	0.99
R1734:BC049715	UTSW	6	136,817,306 (GRCm39)	missense	probably damaging	1.00
R1737:BC049715	UTSW	6	136,817,306 (GRCm39)	missense	probably damaging	1.00
R1738:BC049715	UTSW	6	136,817,306 (GRCm39)	missense	probably damaging	1.00
R2264:BC049715	UTSW	6	136,817,434 (GRCm39)	nonsense	probably null
R3004:BC049715	UTSW	6	136,816,790 (GRCm39)	missense	possibly damaging	0.80
R3937:BC049715	UTSW	6	136,817,453 (GRCm39)	missense	possibly damaging	0.93
R3938:BC049715	UTSW	6	136,817,453 (GRCm39)	missense	possibly damaging	0.93
R4459:BC049715	UTSW	6	136,817,050 (GRCm39)	missense	probably damaging	0.99
R4806:BC049715	UTSW	6	136,816,927 (GRCm39)	missense	possibly damaging	0.93
R5086:BC049715	UTSW	6	136,817,429 (GRCm39)	missense	probably damaging	1.00
R6280:BC049715	UTSW	6	136,817,229 (GRCm39)	nonsense	probably null
R7383:BC049715	UTSW	6	136,817,453 (GRCm39)	missense	probably damaging	0.98
R8055:BC049715	UTSW	6	136,816,913 (GRCm39)	missense	possibly damaging	0.95
R8768:BC049715	UTSW	6	136,816,979 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACCACACCGCGGAAGATATG -3'
(R):5'- ACAAAGATATCCCCTTCCATGGTC -3'

Sequencing Primer
(F):5'- ATCCAGACATCAGGTGCTGC -3'
(R):5'- AGATATCCCCTTCCATGGTCTTGATG -3'

Posted On

2019-10-17