Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:BC049715'

307226

Institutional Source

Beutler Lab

Gene Symbol

BC049715

Ensembl Gene

ENSMUSG00000047515

Gene Name

cDNA sequence BC049715

Synonyms

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136804624-136817660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136817453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 231 (I231T)

Ref Sequence

ENSEMBL: ENSMUSP00000145015 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052702
AA Change: I231T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: I231T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163640
AA Change: I231T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: I231T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203499
AA Change: I231T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: I231T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204086

Meta Mutation Damage Score

0.1042

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,865,393 (GRCm39)	P355T	probably benign	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
Chpf	A	T	1: 75,454,184 (GRCm39)	V198E	probably damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,420,824 (GRCm39)	R384*	probably null	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hps6	A	G	19: 45,992,492 (GRCm39)	E143G	probably damaging	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	probably 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
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
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'- TCAGATGCCACCTCAGATGC -3'
(R):5'- GAACTACAGGTGAGTGGCTTGC -3'

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

Posted On

2015-04-17