Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Vrtn'

32899

Institutional Source

Beutler Lab

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

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

Stock #

R0044 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

84641019-84651455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84648605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 43 (L43H)

Ref Sequence

ENSEMBL: ENSMUSP00000152493 (fasta)

Gene Model

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

AlphaFold

Q3SYK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095551
AA Change: L43H

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

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: L43H

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: L43H

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

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: L43H

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: L43H

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

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: L43H

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: ENSMUST00000221915
AA Change: L43H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222319
AA Change: L43H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.5467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,342,499 (GRCm38)	R50S	probably damaging	Het
Actn2	G	T	13: 12,275,127 (GRCm38)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,171,588 (GRCm38)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,727,899 (GRCm38)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,799,899 (GRCm38)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,400,209 (GRCm38)	T893I	probably benign	Het
Atp11b	T	A	3: 35,812,252 (GRCm38)	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,882,679 (GRCm38)		probably benign	Het
Capn1	T	A	19: 6,014,343 (GRCm38)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,360,901 (GRCm38)	L190H	probably damaging	Het
Cfap54	T	C	10: 93,035,433 (GRCm38)	I594V	probably null	Het
Cpsf1	A	G	15: 76,599,553 (GRCm38)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,165,371 (GRCm38)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,191,134 (GRCm38)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,692,154 (GRCm38)	N189D	probably damaging	Het
Dido1	C	T	2: 180,661,819 (GRCm38)	A1431T	probably damaging	Het
Diras1	G	T	10: 81,022,138 (GRCm38)	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290 (GRCm38)	H41Q	possibly damaging	Het
Ebf2	C	T	14: 67,310,968 (GRCm38)		probably benign	Het
Fcho2	A	G	13: 98,755,544 (GRCm38)		probably benign	Het
Gbe1	T	A	16: 70,561,132 (GRCm38)	Y681*	probably null	Het
Gm10036	A	C	18: 15,832,816 (GRCm38)	K8T	probably benign	Het
Herc1	T	A	9: 66,448,175 (GRCm38)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,412,508 (GRCm38)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,582,105 (GRCm38)	C119S	probably benign	Het
Kif1b	A	G	4: 149,263,601 (GRCm38)		probably benign	Het
Kif6	T	C	17: 49,832,256 (GRCm38)		probably benign	Het
Lpin1	A	T	12: 16,568,529 (GRCm38)		probably benign	Het
Lrp2	T	C	2: 69,527,555 (GRCm38)	I377V	probably benign	Het
Mavs	C	A	2: 131,242,024 (GRCm38)	T147N	probably damaging	Het
Mcoln2	C	T	3: 146,183,561 (GRCm38)	T374M	probably damaging	Het
Mreg	T	G	1: 72,162,375 (GRCm38)	T153P	probably damaging	Het
Naglu	T	C	11: 101,071,217 (GRCm38)	I172T	probably damaging	Het
Ogdhl	T	C	14: 32,339,328 (GRCm38)	V492A	possibly damaging	Het
Olfr1245	A	G	2: 89,575,630 (GRCm38)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,337,882 (GRCm38)	E323G	probably benign	Het
Pgap1	A	G	1: 54,493,368 (GRCm38)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 100,250,332 (GRCm38)	N51S	probably benign	Het
Pik3r6	A	G	11: 68,544,750 (GRCm38)	T609A	probably benign	Het
Plcb4	T	A	2: 135,971,856 (GRCm38)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,671,889 (GRCm38)		probably null	Het
Prkg2	C	A	5: 98,973,130 (GRCm38)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,086,329 (GRCm38)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,403 (GRCm38)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,623,515 (GRCm38)	D10V	probably benign	Het
Rexo1	T	A	10: 80,544,378 (GRCm38)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 46,778,530 (GRCm38)		probably null	Het
Rrm2b	A	G	15: 37,953,688 (GRCm38)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,492,047 (GRCm38)		probably null	Het
Sgtb	A	G	13: 104,129,260 (GRCm38)	T93A	probably benign	Het
Sigirr	G	T	7: 141,092,313 (GRCm38)		probably null	Het
Slc16a7	T	C	10: 125,228,082 (GRCm38)	D462G	probably benign	Het
Slc25a30	C	T	14: 75,769,649 (GRCm38)	A85T	probably benign	Het
Spata24	A	G	18: 35,656,834 (GRCm38)	S167P	probably damaging	Het
Spock3	C	T	8: 63,144,007 (GRCm38)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,319,551 (GRCm38)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,135,147 (GRCm38)	M23L	unknown	Het
Synrg	G	A	11: 84,009,181 (GRCm38)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,412,829 (GRCm38)		probably benign	Het
Tnfaip3	C	A	10: 19,011,626 (GRCm38)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,325,773 (GRCm38)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,636,806 (GRCm38)	V321G	probably benign	Het
Ttc25	A	T	11: 100,567,001 (GRCm38)	I477F	probably damaging	Het
Ubr2	A	G	17: 46,992,985 (GRCm38)		probably benign	Het
Ubr4	T	C	4: 139,437,058 (GRCm38)		probably benign	Het
Usp24	T	C	4: 106,412,084 (GRCm38)		probably benign	Het
Vmn2r100	A	T	17: 19,522,179 (GRCm38)	I272L	possibly damaging	Het
Wnk1	G	T	6: 120,037,149 (GRCm38)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,684,062 (GRCm38)	W93*	probably null	Het
Zfp804b	G	T	5: 6,769,655 (GRCm38)	P1136H	probably damaging	Het

Other mutations in Vrtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Vrtn	APN	12	84,649,063 (GRCm38)	missense	probably benign	0.01
IGL01777:Vrtn	APN	12	84,648,922 (GRCm38)	missense	probably benign	0.13
IGL01911:Vrtn	APN	12	84,650,206 (GRCm38)	missense	probably benign
IGL02219:Vrtn	APN	12	84,648,833 (GRCm38)	missense	probably damaging	1.00
IGL02684:Vrtn	APN	12	84,650,149 (GRCm38)	missense	probably benign
IGL02947:Vrtn	APN	12	84,648,484 (GRCm38)	missense	probably damaging	0.98
IGL03296:Vrtn	APN	12	84,648,848 (GRCm38)	missense	probably damaging	1.00
PIT4378001:Vrtn	UTSW	12	84,649,169 (GRCm38)	missense	probably damaging	0.99
R1546:Vrtn	UTSW	12	84,648,508 (GRCm38)	missense	probably damaging	1.00
R1584:Vrtn	UTSW	12	84,650,081 (GRCm38)	missense	probably damaging	1.00
R1693:Vrtn	UTSW	12	84,648,655 (GRCm38)	missense	probably benign	0.03
R1773:Vrtn	UTSW	12	84,650,224 (GRCm38)	missense	probably damaging	0.98
R1951:Vrtn	UTSW	12	84,649,199 (GRCm38)	missense	probably damaging	1.00
R2143:Vrtn	UTSW	12	84,650,162 (GRCm38)	missense	probably benign	0.00
R4044:Vrtn	UTSW	12	84,649,070 (GRCm38)	missense	probably damaging	1.00
R4777:Vrtn	UTSW	12	84,648,826 (GRCm38)	missense	probably damaging	1.00
R4835:Vrtn	UTSW	12	84,649,694 (GRCm38)	missense	probably damaging	0.97
R5076:Vrtn	UTSW	12	84,649,474 (GRCm38)	missense	probably damaging	1.00
R5783:Vrtn	UTSW	12	84,650,477 (GRCm38)	missense	probably benign	0.31
R5831:Vrtn	UTSW	12	84,648,575 (GRCm38)	missense	probably damaging	1.00
R6349:Vrtn	UTSW	12	84,649,018 (GRCm38)	missense	probably damaging	1.00
R6499:Vrtn	UTSW	12	84,650,316 (GRCm38)	missense	probably benign	0.01
R6931:Vrtn	UTSW	12	84,650,242 (GRCm38)	missense	probably benign
R7192:Vrtn	UTSW	12	84,648,862 (GRCm38)	missense	probably damaging	0.98
R7789:Vrtn	UTSW	12	84,650,306 (GRCm38)	missense	probably benign
R8059:Vrtn	UTSW	12	84,649,916 (GRCm38)	missense	probably benign
R8095:Vrtn	UTSW	12	84,650,035 (GRCm38)	missense	probably damaging	1.00
R8096:Vrtn	UTSW	12	84,650,035 (GRCm38)	missense	probably damaging	1.00
R8136:Vrtn	UTSW	12	84,650,035 (GRCm38)	missense	probably damaging	1.00
R8142:Vrtn	UTSW	12	84,650,621 (GRCm38)	missense	probably damaging	1.00
R8557:Vrtn	UTSW	12	84,649,916 (GRCm38)	missense	probably benign
R9165:Vrtn	UTSW	12	84,650,477 (GRCm38)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ACAGGTTGAGAACTGCTGCTGC -3'
(R):5'- ATCACCTTGGAGTCGATCATGCCC -3'

Sequencing Primer
(F):5'- AGCGCACACCCACCATTC -3'
(R):5'- TGCAGATAATAGTGCCTGTGC -3'

Posted On

2013-05-09