Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136827626-136840662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136840455 bp (GRCm38)

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
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Col11a2	A	T	17: 34,039,625		probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Erap1	T	A	13: 74,668,028	L92Q	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,695,473	L311P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Slc7a8	T	A	14: 54,735,841	E223V	probably benign	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Sytl1	G	A	4: 133,255,624	Q359*	probably null	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	probably damaging	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
R0375:BC049715	UTSW	6	136839996	missense	probably benign	0.12
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
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'- TCAGATGCCACCTCAGATGC -3'
(R):5'- AACTACAGGTGAGTGGCTTGC -3'

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

Posted On

2015-04-17