Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Vrtn'

696009

Institutional Source

Beutler Lab

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84641019-84651455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84650477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 667 (L667Q)

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: L667Q

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: L667Q

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: L667Q

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: L667Q

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: L667Q

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: L667Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,615,244	I248V	probably benign	Het
1700122O11Rik	T	C	17: 48,037,548	I27V	probably benign	Het
A2ml1	T	A	6: 128,560,669	H693L	probably benign	Het
Acacb	A	G	5: 114,216,683	E1206G	probably benign	Het
Acoxl	A	G	2: 127,884,512	T269A	probably benign	Het
Ak9	A	G	10: 41,433,239	K1879R	unknown	Het
Amot	A	T	X: 145,461,749	L435H		Het
Bnc2	A	T	4: 84,411,494	L95Q		Het
Bpifa2	G	T	2: 154,009,821	W59L	probably benign	Het
Cd209a	T	A	8: 3,745,602	Q156H	probably damaging	Het
Cep104	T	A	4: 153,994,514		probably null	Het
Cpt1c	A	G	7: 44,959,501	*799R	probably null	Het
Csn2	A	T	5: 87,694,559	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,538,369	A872P	probably damaging	Het
Dlg5	C	A	14: 24,146,241	L1629F	probably damaging	Het
Dmxl1	A	G	18: 49,878,925	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,144,941	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,276,706	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883	V2425D	probably damaging	Het
Eif2a	G	A	3: 58,545,274	R199Q	probably damaging	Het
F10	T	C	8: 13,039,564	F60L	probably benign	Het
Faf2	A	G	13: 54,652,138	I253V	probably benign	Het
Fam71a	A	G	1: 191,163,061	S462P	probably benign	Het
Flt1	T	A	5: 147,615,237	S715C	probably damaging	Het
Gm2056	A	G	12: 88,027,307	S102G	possibly damaging	Het
Gm5150	G	T	3: 15,990,896	T55K	probably damaging	Het
Gria1	T	C	11: 57,185,933	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,454,064	Q505R	probably benign	Het
Gzma	A	T	13: 113,100,921	S11T	probably benign	Het
Hoxa6	G	A	6: 52,208,555	Q24*	probably null	Het
Kcnj14	T	A	7: 45,819,644	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,920,771	R149H	probably damaging	Het
Lama2	A	G	10: 27,053,026		probably null	Het
Lama5	C	A	2: 180,179,493	R3092L	probably damaging	Het
Lca5l	T	A	16: 96,176,018	N196I	probably damaging	Het
Lig4	A	G	8: 9,972,394	L462S	probably damaging	Het
Nbea	A	T	3: 56,004,868	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,181,603	F401Y	probably benign	Het
Olfr1335	T	A	4: 118,808,998	R289*	probably null	Het
Olfr1431	A	T	19: 12,209,922	M119L	probably damaging	Het
Olfr1507	A	G	14: 52,490,373	I197T	possibly damaging	Het
Olfr299	A	T	7: 86,465,617	M69L	probably benign	Het
Otop3	A	C	11: 115,344,598	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,272,637	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,816,087	V497F	possibly damaging	Het
Pnma2	G	A	14: 66,917,123	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,331,564	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659	R277P	unknown	Het
Prdm2	A	G	4: 143,132,104	S1539P	possibly damaging	Het
Ptger2	A	G	14: 44,989,778	T272A	probably damaging	Het
Qser1	T	C	2: 104,788,470	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,281,804		probably benign	Het
Sacm1l	G	T	9: 123,568,956	V238L	probably damaging	Het
Sec16a	C	T	2: 26,423,633	G454D		Het
Sil1	A	G	18: 35,317,846	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,574,904	L16P	probably damaging	Het
Slc22a20	A	T	19: 5,982,851	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,533,623	R580L	probably benign	Het
Ssr3	A	G	3: 65,383,100	V128A	probably damaging	Het
Stpg2	G	T	3: 139,309,232	S386I	possibly damaging	Het
Taar8c	C	A	10: 24,101,602	C104F	probably damaging	Het
Tex2	T	C	11: 106,567,269	E445G	unknown	Het
Tmem253	A	C	14: 52,018,642	D126A	probably benign	Het
Tox4	A	G	14: 52,285,790	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,811,538	S254C	probably benign	Het
Trmt12	T	G	15: 58,873,745	S331A	probably benign	Het
Ttn	A	G	2: 76,713,006	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,080,734	E431K	unknown	Het
Ugt1a10	A	T	1: 88,055,787	E102D	probably benign	Het
Unc80	A	T	1: 66,549,841	E1055V	probably null	Het
Vav1	C	A	17: 57,311,895	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,432,261	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,732,070	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,679,024		probably benign	Het
Vps33b	G	A	7: 80,274,686		probably null	Het
Xirp1	G	A	9: 120,018,236	T527M	probably benign	Het
Ylpm1	T	A	12: 85,030,568	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,701,454	Y251F	possibly damaging	Het
Zmym2	A	T	14: 56,948,007	Y1032F	probably 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
R8142:Vrtn	UTSW	12	84650621	missense	probably damaging	1.00
R8557:Vrtn	UTSW	12	84649916	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTGAACCACAGGCTATGG -3'
(R):5'- CAGTGTGAGACCTTCATAGAGCG -3'

Sequencing Primer
(F):5'- CTATGGAAGCTGATCAGAATGTACC -3'
(R):5'- CCGCTTCCACATGTAGTAGGTG -3'

Posted On

2022-02-07