Mutagenetix > Incidental Mutation

Incidental Mutation 'R8142:Vrtn'

632598

Institutional Source

Beutler Lab

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8142 (G1)

Quality Score

142.008

Status

Not validated

Chromosome

Chromosomal Location

84641019-84651455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84650621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 715 (L715P)

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: L715P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: L715P

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: L715P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: L715P

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: L715P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: L715P

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: 99.7%
3x: 99.5%
10x: 98.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1e2	A	T	17: 86,944,655	I105N	possibly damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,870,306	S980P	probably damaging	Het
Ccno	T	G	13: 112,988,955	L151R	probably damaging	Het
Cdh2	A	C	18: 16,601,734	I801S	probably benign	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Dab1	T	A	4: 104,678,724	V110D	probably damaging	Het
Dnah3	T	C	7: 120,060,966	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,373	V3088L	probably benign	Het
Dtd2	T	A	12: 51,999,810	D82V	probably damaging	Het
Dusp5	T	C	19: 53,537,481	F185L	probably damaging	Het
Epha10	A	G	4: 124,885,846	T162A	probably damaging	Het
Fat4	A	T	3: 38,891,203	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,575,790	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,215,475	E1651*	probably null	Het
Gm15922	A	G	7: 3,736,843	S418P	possibly damaging	Het
Ifit3	G	T	19: 34,587,501	C149F	probably damaging	Het
Lepr	C	A	4: 101,765,419	H465Q	possibly damaging	Het
Ltn1	A	C	16: 87,381,641	S1567A	probably benign	Het
March1	T	C	8: 66,456,126	V166A	probably benign	Het
Marveld2	T	C	13: 100,600,940	H424R	possibly damaging	Het
Mypop	A	G	7: 19,001,126	T383A	unknown	Het
Ngef	G	C	1: 87,540,741	R99G	probably benign	Het
Npepps	G	T	11: 97,218,572	A726D	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,650	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,721,113	D187G	probably damaging	Het
Pdzd3	A	G	9: 44,250,781		probably null	Het
Per2	T	C	1: 91,421,547	E1034G	possibly damaging	Het
Pkhd1l1	G	A	15: 44,514,931	R1027H	probably benign	Het
Pon2	A	T	6: 5,266,239	V260D	probably benign	Het
Rnase13	A	G	14: 51,922,436	I82T	probably damaging	Het
Sbno1	A	G	5: 124,408,545	S194P	probably benign	Het
Serpinb6c	T	A	13: 33,880,113	I320L	probably benign	Het
Sh3rf3	C	T	10: 59,049,383	R363*	probably null	Het
Slc11a1	T	C	1: 74,385,259	F500L	probably benign	Het
Slc1a4	A	G	11: 20,307,890		probably null	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Sorcs2	T	C	5: 36,062,614	N362S	possibly damaging	Het
Stau2	A	G	1: 16,460,351	S115P	unknown	Het
Stk38l	A	G	6: 146,758,572	N34S	probably benign	Het
Tmem201	T	C	4: 149,718,657	T585A	probably benign	Het
Ttc6	A	T	12: 57,697,472	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,546,900	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,414,107	I293V		Het
Vps11	T	C	9: 44,354,555	T476A	probably benign	Het
Wdr72	T	G	9: 74,139,667	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,951,475	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,412,481	S16*	probably null	Het
Zfhx2	G	A	14: 55,073,438	L600F	possibly damaging	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
R8136:Vrtn	UTSW	12	84650035	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'- AAGAGGCAGCTATGACCCAG -3'
(R):5'- TCCTGTAGCTTTTGTCAGAGCG -3'

Sequencing Primer
(F):5'- GAGCCAACCCCATAGTGGATCG -3'
(R):5'- CTTTTGTCAGAGCGAGCGGC -3'

Posted On

2020-06-30