Mutagenetix > Incidental Mutation

Incidental Mutation 'R8136:Vrtn'

632267

Institutional Source

Beutler Lab

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

MMRRC Submission

067564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84641019-84651455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84650035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 520 (R520C)

Ref Sequence

ENSEMBL: ENSMUSP00000093207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095551] [ENSMUST00000166772] [ENSMUST00000167227] [ENSMUST00000221915] [ENSMUST00000222319]

AlphaFold

Q3SYK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095551
AA Change: R520C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: R520C

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	254	267	N/A	INTRINSIC
internal_repeat_1	312	354	6.24e-8	PROSPERO
low complexity region	393	405	N/A	INTRINSIC
low complexity region	514	524	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
internal_repeat_1	687	731	6.24e-8	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000166772
AA Change: R520C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: R520C

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	254	267	N/A	INTRINSIC
internal_repeat_1	312	354	6.24e-8	PROSPERO
low complexity region	393	405	N/A	INTRINSIC
low complexity region	514	524	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
internal_repeat_1	687	731	6.24e-8	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000167227
AA Change: R520C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: R520C

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	254	267	N/A	INTRINSIC
internal_repeat_1	312	354	6.24e-8	PROSPERO
low complexity region	393	405	N/A	INTRINSIC
low complexity region	514	524	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
internal_repeat_1	687	731	6.24e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000221915

Predicted Effect

probably benign
Transcript: ENSMUST00000222319

Meta Mutation Damage Score

0.1050

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	probably benign	Het

Other mutations in Vrtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Vrtn	APN	12	84649063	missense	probably benign	0.01
IGL01777:Vrtn	APN	12	84648922	missense	probably benign	0.13
IGL01911:Vrtn	APN	12	84650206	missense	probably benign
IGL02219:Vrtn	APN	12	84648833	missense	probably damaging	1.00
IGL02684:Vrtn	APN	12	84650149	missense	probably benign
IGL02947:Vrtn	APN	12	84648484	missense	probably damaging	0.98
IGL03296:Vrtn	APN	12	84648848	missense	probably damaging	1.00
PIT4378001:Vrtn	UTSW	12	84649169	missense	probably damaging	0.99
R0044:Vrtn	UTSW	12	84648605	missense	probably damaging	1.00
R1546:Vrtn	UTSW	12	84648508	missense	probably damaging	1.00
R1584:Vrtn	UTSW	12	84650081	missense	probably damaging	1.00
R1693:Vrtn	UTSW	12	84648655	missense	probably benign	0.03
R1773:Vrtn	UTSW	12	84650224	missense	probably damaging	0.98
R1951:Vrtn	UTSW	12	84649199	missense	probably damaging	1.00
R2143:Vrtn	UTSW	12	84650162	missense	probably benign	0.00
R4044:Vrtn	UTSW	12	84649070	missense	probably damaging	1.00
R4777:Vrtn	UTSW	12	84648826	missense	probably damaging	1.00
R4835:Vrtn	UTSW	12	84649694	missense	probably damaging	0.97
R5076:Vrtn	UTSW	12	84649474	missense	probably damaging	1.00
R5783:Vrtn	UTSW	12	84650477	missense	probably benign	0.31
R5831:Vrtn	UTSW	12	84648575	missense	probably damaging	1.00
R6349:Vrtn	UTSW	12	84649018	missense	probably damaging	1.00
R6499:Vrtn	UTSW	12	84650316	missense	probably benign	0.01
R6931:Vrtn	UTSW	12	84650242	missense	probably benign
R7192:Vrtn	UTSW	12	84648862	missense	probably damaging	0.98
R7789:Vrtn	UTSW	12	84650306	missense	probably benign
R8059:Vrtn	UTSW	12	84649916	missense	probably benign
R8095:Vrtn	UTSW	12	84650035	missense	probably damaging	1.00
R8096:Vrtn	UTSW	12	84650035	missense	probably damaging	1.00
R8142:Vrtn	UTSW	12	84650621	missense	probably damaging	1.00
R8557:Vrtn	UTSW	12	84649916	missense	probably benign
R9165:Vrtn	UTSW	12	84650477	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TTTGAAACTGCTGAGTCTCTCC -3'
(R):5'- GTGGTTCAACTGGCTTCTGC -3'

Sequencing Primer
(F):5'- TGAGTCTCTCCAGCCAACAGATG -3'
(R):5'- GGGCTTCTGCTGTTCCTCG -3'

Posted On

2020-06-30