Mutagenetix > Incidental Mutation

Incidental Mutation 'R3938:BC049715'

307272

Institutional Source

Beutler Lab

Gene Symbol

BC049715

Ensembl Gene

ENSMUSG00000047515

Gene Name

cDNA sequence BC049715

Synonyms

MMRRC Submission

040825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3938 (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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,361,513 (GRCm39)	N659I	probably benign	Het
Bmp4	T	C	14: 46,621,536 (GRCm39)	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,209,870 (GRCm39)	T293I	probably benign	Het
Chd5	A	T	4: 152,461,512 (GRCm39)	T1275S	probably benign	Het
Chtf8	A	T	8: 107,612,537 (GRCm39)	M134K	probably benign	Het
Col11a2	A	T	17: 34,258,599 (GRCm39)		probably benign	Het
Cyp8b1	A	G	9: 121,744,684 (GRCm39)	V216A	probably benign	Het
Dnah8	C	T	17: 31,073,911 (GRCm39)	T4527M	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Erap1	T	A	13: 74,816,147 (GRCm39)	L92Q	probably damaging	Het
Exoc3l	G	T	8: 106,020,037 (GRCm39)	P296H	probably damaging	Het
Fcgbpl1	C	T	7: 27,853,719 (GRCm39)	P1561L	probably damaging	Het
Foxl3	A	T	5: 138,806,723 (GRCm39)	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,162 (GRCm39)	N133K	probably benign	Het
Itgax	G	T	7: 127,735,445 (GRCm39)	R504S	possibly damaging	Het
Itgb4	A	G	11: 115,896,752 (GRCm39)	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,735,838 (GRCm39)	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,596,983 (GRCm39)	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga1	G	T	17: 30,076,596 (GRCm39)	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,163,842 (GRCm39)	V466A	possibly damaging	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
Nemp1	T	C	10: 127,531,342 (GRCm39)	L311P	probably damaging	Het
Nup205	A	G	6: 35,196,677 (GRCm39)	R1138G	probably damaging	Het
Nup54	A	G	5: 92,565,388 (GRCm39)	M443T	probably damaging	Het
Peak1	T	C	9: 56,167,649 (GRCm39)	E93G	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Poll	A	G	19: 45,546,857 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Pygm	A	T	19: 6,442,980 (GRCm39)	I556F	probably benign	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rcor3	G	T	1: 191,785,385 (GRCm39)	T361K	possibly damaging	Het
Robo4	A	G	9: 37,313,313 (GRCm39)		probably benign	Het
Rps15	T	C	10: 80,129,673 (GRCm39)	V96A	probably benign	Het
Rrm2	T	A	12: 24,759,431 (GRCm39)	N55K	probably damaging	Het
Shank2	T	C	7: 143,682,112 (GRCm39)	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,382,819 (GRCm39)	E3*	probably null	Het
Slc7a8	T	A	14: 54,973,298 (GRCm39)	E223V	probably benign	Het
Snx13	A	G	12: 35,194,096 (GRCm39)	K880E	probably benign	Het
Spinkl	T	G	18: 44,301,216 (GRCm39)	M41L	probably benign	Het
Srp54a	A	C	12: 55,136,042 (GRCm39)	N19T	probably benign	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Sytl1	G	A	4: 132,982,935 (GRCm39)	Q359*	probably null	Het
Tlr6	A	T	5: 65,110,938 (GRCm39)	F656L	probably damaging	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tmem45a2	C	T	16: 56,859,398 (GRCm39)	D278N	probably benign	Het
Trav7-1	T	C	14: 52,892,791 (GRCm39)		probably benign	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,779,882 (GRCm39)		probably benign	Het
Usp9y	C	T	Y: 1,313,741 (GRCm39)	M2188I	probably damaging	Het
Utrn	C	A	10: 12,625,774 (GRCm39)		probably null	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,524,390 (GRCm39)	Y59F	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
R3937: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'- AACTACAGGTGAGTGGCTTGC -3'

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

Posted On

2015-04-17