Mutagenetix > Incidental Mutation

Incidental Mutation 'R6499:Vrtn'

519640

Institutional Source

Beutler Lab

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

MMRRC Submission

044631-MU

Accession Numbers

Essential gene?

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

Stock #

R6499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84641019-84651455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84650316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 613 (D613E)

Ref Sequence

ENSEMBL: ENSMUSP00000132050 (fasta)

Gene Model

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

AlphaFold

Q3SYK4

Predicted Effect

probably benign
Transcript: ENSMUST00000095551
AA Change: D613E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: D613E

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: ENSMUST00000166772
AA Change: D613E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: D613E

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: ENSMUST00000167227
AA Change: D613E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: D613E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,068,800	T1250M	probably damaging	Het
Actn1	C	T	12: 80,168,417	A857T	possibly damaging	Het
Adam2	C	T	14: 66,058,790	V207I	probably damaging	Het
Angpt2	T	C	8: 18,694,517	T404A	probably benign	Het
Ank3	T	C	10: 69,991,744		probably benign	Het
B4galt4	T	A	16: 38,757,822	D210E	probably benign	Het
Brinp3	A	T	1: 146,901,693	H626L	possibly damaging	Het
Ccna2	T	G	3: 36,570,963	D68A	probably damaging	Het
Cd163	G	A	6: 124,304,744	G2D	probably benign	Het
Chrm5	A	T	2: 112,480,480	V97D	probably benign	Het
Dctn5	G	A	7: 122,135,097	V55I	probably benign	Het
Dnm3	A	T	1: 162,313,595	I365N	probably damaging	Het
Esyt2	A	G	12: 116,321,170	D184G	probably damaging	Het
Fam214a	C	A	9: 75,023,648	Q958K	probably damaging	Het
Ifi214	C	A	1: 173,525,031	K277N	probably damaging	Het
Il11ra1	C	T	4: 41,765,412	P169L	probably benign	Het
Inhbb	C	T	1: 119,417,339	E407K	probably damaging	Het
Lama2	T	A	10: 27,031,158	T2336S	probably damaging	Het
Ldhb	A	T	6: 142,494,121	V231E	possibly damaging	Het
Lrit2	T	C	14: 37,068,810	F149L	probably damaging	Het
Malrd1	T	A	2: 15,931,689	S1575T	probably benign	Het
Naip5	A	G	13: 100,221,594	C1045R	probably benign	Het
Nefl	A	G	14: 68,084,585	E208G	probably damaging	Het
Olfr20	T	A	11: 73,354,185	L144Q	probably damaging	Het
Olfr507	G	T	7: 108,622,506	M231I	probably benign	Het
Olfr812	T	C	10: 129,842,584	I153V	probably benign	Het
Olfr859	A	G	9: 19,808,551	I78V	probably benign	Het
Oog4	A	C	4: 143,437,978	S328A	probably damaging	Het
Pbrm1	A	G	14: 31,061,509	N528D	probably damaging	Het
Pls1	A	G	9: 95,754,745	I558T	probably damaging	Het
Polq	T	C	16: 37,060,827	S839P	probably benign	Het
Psmg1	A	G	16: 95,988,097	F87L	probably damaging	Het
Ptprt	A	G	2: 161,534,587	M1298T	probably benign	Het
Rbm27	T	A	18: 42,337,011	W958R	probably damaging	Het
Skint5	T	G	4: 113,539,355	D1207A	unknown	Het
Stx17	T	A	4: 48,183,478		probably null	Het
Tas2r114	A	T	6: 131,689,136	*310R	probably null	Het
Tmem130	T	A	5: 144,752,414	N139I	probably damaging	Het
Trpc1	T	C	9: 95,726,437	E267G	probably damaging	Het
Trrap	T	A	5: 144,857,002	M3398K	probably damaging	Het
Vsx1	G	T	2: 150,688,521	T147K	probably benign	Het
Wdr55	T	C	18: 36,762,178	V103A	probably benign	Het
Zfp712	A	T	13: 67,052,336	D28E	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
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
R8136: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'- AAAAGTCTTTCCCGGAGATCG -3'
(R):5'- TGGTAAGCATGTCCATCACCAG -3'

Sequencing Primer
(F):5'- ATCGCCCGGGATGCAGATTC -3'
(R):5'- TGTCCATCACCAGCACCTG -3'

Posted On

2018-06-06