Mutagenetix > Incidental Mutation

Incidental Mutation 'R7383:BC049715'

572868

Institutional Source

Beutler Lab

Gene Symbol

BC049715

Ensembl Gene

ENSMUSG00000047515

Gene Name

cDNA sequence BC049715

Synonyms

MMRRC Submission

045465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7383 (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 A at 136817453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 231 (I231N)

Ref Sequence

ENSEMBL: ENSMUSP00000049512 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052702
AA Change: I231N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: I231N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163640
AA Change: I231N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: I231N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203499
AA Change: I231N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: I231N

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,818,548 (GRCm39)	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,311,653 (GRCm39)	V241G	possibly damaging	Het
Bckdhb	T	G	9: 83,835,766 (GRCm39)	V90G	possibly damaging	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,452,776 (GRCm39)	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,364,148 (GRCm39)	V305E	probably damaging	Het
Clasrp	C	A	7: 19,319,198 (GRCm39)	R489L	unknown	Het
Col24a1	A	G	3: 145,004,599 (GRCm39)	I26V	probably benign	Het
Cort	C	T	4: 149,209,861 (GRCm39)	A64T	possibly damaging	Het
Dmkn	T	A	7: 30,464,793 (GRCm39)	N255K	unknown	Het
Dph2	A	T	4: 117,748,566 (GRCm39)	L69Q	probably damaging	Het
Fbxo11	A	G	17: 88,310,282 (GRCm39)	I432T		Het
Fgd3	T	C	13: 49,421,785 (GRCm39)	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,964,099 (GRCm39)	K111E	probably benign	Het
Gdf6	T	A	4: 9,859,537 (GRCm39)	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,600,354 (GRCm39)	L429Q	probably damaging	Het
Hk2	A	G	6: 82,726,276 (GRCm39)	F90S	probably damaging	Het
Hrnr	A	T	3: 93,239,098 (GRCm39)	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,297,917 (GRCm39)	K402T	probably benign	Het
Htr1f	T	C	16: 64,747,206 (GRCm39)	T29A	probably benign	Het
Ikbkb	C	A	8: 23,159,066 (GRCm39)	A471S	probably benign	Het
Inpp5f	A	G	7: 128,296,310 (GRCm39)	D887G	probably damaging	Het
Ipo9	A	G	1: 135,316,411 (GRCm39)	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,025,537 (GRCm39)	N118I	probably benign	Het
Kif26b	T	G	1: 178,358,275 (GRCm39)	C129G	probably damaging	Het
Mga	G	A	2: 119,790,821 (GRCm39)	A2236T	probably damaging	Het
Micu2	T	C	14: 58,154,810 (GRCm39)	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,204,577 (GRCm39)	V59D	probably damaging	Het
Nav3	A	G	10: 109,552,532 (GRCm39)	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,392,183 (GRCm39)	I190N	probably damaging	Het
Niban3	A	C	8: 72,056,470 (GRCm39)	E390A	possibly damaging	Het
Npat	T	A	9: 53,474,078 (GRCm39)	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,167,777 (GRCm39)	T1005A	probably benign	Het
Or10ag58	A	G	2: 87,265,721 (GRCm39)	S297G	possibly damaging	Het
Or14c39	A	T	7: 86,343,960 (GRCm39)	I99F	probably damaging	Het
Or1e22	A	G	11: 73,376,715 (GRCm39)	*312Q	probably null	Het
Or2b4	A	G	17: 38,116,972 (GRCm39)	K312R	probably benign	Het
Or2w3	T	C	11: 58,557,011 (GRCm39)	S209P	possibly damaging	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Or8s8	C	G	15: 98,354,578 (GRCm39)	P129R	probably damaging	Het
Pafah1b2	C	T	9: 45,880,147 (GRCm39)	G177R	probably benign	Het
Phc1	A	G	6: 122,300,317 (GRCm39)	S521P	unknown	Het
Plpp2	A	T	10: 79,366,841 (GRCm39)	L25Q	probably null	Het
Plxna4	A	G	6: 32,129,734 (GRCm39)		probably null	Het
Ppl	G	T	16: 4,915,835 (GRCm39)	P576Q	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 6,887,899 (GRCm39)	G13S	probably benign	Het
Rhot1	C	G	11: 80,114,760 (GRCm39)	P56R	probably damaging	Het
Sipa1l2	A	G	8: 126,174,385 (GRCm39)	W1298R	probably damaging	Het
Slc16a14	G	A	1: 84,890,292 (GRCm39)	H338Y	probably damaging	Het
Slc8a3	T	G	12: 81,362,579 (GRCm39)	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,003,608 (GRCm39)	Y513*	probably null	Het
Smarcd2	A	G	11: 106,155,602 (GRCm39)	C405R	probably damaging	Het
Szt2	G	A	4: 118,222,411 (GRCm39)	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841 (GRCm39)	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,844,358 (GRCm39)	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,577,892 (GRCm39)	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Togaram2	A	T	17: 72,007,512 (GRCm39)	I354F	probably damaging	Het
Uchl5	T	A	1: 143,659,753 (GRCm39)	S42R	probably benign	Het
Virma	C	A	4: 11,514,026 (GRCm39)	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,240,684 (GRCm39)	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,660,734 (GRCm39)	V382G	probably benign	Het
Wipf3	G	T	6: 54,462,263 (GRCm39)	A158S	probably benign	Het
Ylpm1	T	G	12: 85,091,242 (GRCm39)	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,524,748 (GRCm39)	C191S	probably benign	Het
Zer1	G	A	2: 30,001,253 (GRCm39)	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,305,710 (GRCm39)	V991D	probably benign	Het
Zscan4b	C	A	7: 10,637,960 (GRCm39)	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,745,672 (GRCm39)	S589T	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
R7554:BC049715	UTSW	6	136,817,295 (GRCm39)	missense	probably damaging	0.99
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'- AGTCAGATGCCACCTCAGATG -3'
(R):5'- ACTACAGGTGAGTGGCTTGC -3'

Sequencing Primer
(F):5'- TGCCACCTCAGATGCCACC -3'
(R):5'- TGCCAAGTGATGACTCTGC -3'

Posted On

2019-09-13