Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02947:Vrtn'

364781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

84687793-84698229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84695258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 3 (S3T)

Ref Sequence

ENSEMBL: ENSMUSP00000132050 (fasta)

Gene Model

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

AlphaFold

Q3SYK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095551
AA Change: S3T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: S3T

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: S3T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: S3T

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: S3T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: S3T

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: S3T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222319
AA Change: S3T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,957 (GRCm39)	V13A	probably benign	Het
Atp8b5	T	A	4: 43,305,774 (GRCm39)	I106K	possibly damaging	Het
Cdh15	T	C	8: 123,592,111 (GRCm39)	S633P	probably benign	Het
Celsr3	A	G	9: 108,723,134 (GRCm39)	T228A	probably benign	Het
Cfap90	T	A	13: 68,759,312 (GRCm39)	F95L	probably benign	Het
Chrng	A	G	1: 87,137,606 (GRCm39)		probably null	Het
Coprs	T	C	8: 13,935,782 (GRCm39)	E79G	probably damaging	Het
Cpb2	A	C	14: 75,520,758 (GRCm39)	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,358,815 (GRCm39)	I368N	probably damaging	Het
Ddah1	T	C	3: 145,464,842 (GRCm39)	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,261,514 (GRCm39)	T573A	probably benign	Het
Exoc6b	T	A	6: 84,835,411 (GRCm39)	M375L	probably benign	Het
Fasn	T	C	11: 120,706,502 (GRCm39)	E994G	probably damaging	Het
Fem1a	T	A	17: 56,565,640 (GRCm39)	C578S	probably benign	Het
Garnl3	A	G	2: 32,936,606 (GRCm39)	S188P	probably damaging	Het
Gpn3	T	C	5: 122,516,551 (GRCm39)	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,043,690 (GRCm39)	D59G	probably damaging	Het
Hydin	A	T	8: 111,145,094 (GRCm39)	E815V	probably damaging	Het
Itga9	C	T	9: 118,487,601 (GRCm39)	T228M	probably damaging	Het
Kpna7	T	C	5: 144,930,884 (GRCm39)	I320M	probably damaging	Het
Lnpep	T	C	17: 17,791,234 (GRCm39)	T437A	probably damaging	Het
Ltf	C	T	9: 110,868,015 (GRCm39)	T48I	probably benign	Het
Masp1	T	G	16: 23,313,476 (GRCm39)	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,264,373 (GRCm39)	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787 (GRCm39)	S171T	probably damaging	Het
Nos1	G	A	5: 118,081,382 (GRCm39)	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,179,246 (GRCm39)	S55P	probably benign	Het
Oc90	T	C	15: 65,759,983 (GRCm39)	K212R	probably benign	Het
Or2a12	A	G	6: 42,904,830 (GRCm39)	I222V	probably benign	Het
Or5t15	C	T	2: 86,681,130 (GRCm39)	R304K	probably benign	Het
Or6c202	C	A	10: 128,996,439 (GRCm39)	C138F	probably damaging	Het
Prr12	T	A	7: 44,697,980 (GRCm39)	Q645L	unknown	Het
Psmd9	A	G	5: 123,384,278 (GRCm39)	I145V	probably benign	Het
Rbks	T	C	5: 31,817,407 (GRCm39)	I121V	probably benign	Het
Rnase2b	A	T	14: 51,400,264 (GRCm39)	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,675,723 (GRCm39)	E78G	probably benign	Het
Sltm	A	G	9: 70,498,946 (GRCm39)	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,182,759 (GRCm39)	Y100*	probably null	Het
Srrm2	T	C	17: 24,029,720 (GRCm39)	S222P	probably benign	Het
Sult3a1	G	A	10: 33,740,046 (GRCm39)	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Tmem53	C	T	4: 117,125,285 (GRCm39)	Q111*	probably null	Het
Togaram1	T	A	12: 65,068,274 (GRCm39)	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,878,483 (GRCm39)	D628V	probably damaging	Het
Ttn	T	A	2: 76,544,838 (GRCm39)	K31009*	probably null	Het
Vldlr	A	G	19: 27,217,120 (GRCm39)	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,934,231 (GRCm39)	F245S	probably benign	Het
Vwa7	A	G	17: 35,242,476 (GRCm39)		probably null	Het
Wrnip1	T	A	13: 33,006,053 (GRCm39)	Y632N	probably damaging	Het

Other mutations in Vrtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Vrtn	APN	12	84,695,837 (GRCm39)	missense	probably benign	0.01
IGL01777:Vrtn	APN	12	84,695,696 (GRCm39)	missense	probably benign	0.13
IGL01911:Vrtn	APN	12	84,696,980 (GRCm39)	missense	probably benign
IGL02219:Vrtn	APN	12	84,695,607 (GRCm39)	missense	probably damaging	1.00
IGL02684:Vrtn	APN	12	84,696,923 (GRCm39)	missense	probably benign
IGL03296:Vrtn	APN	12	84,695,622 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Vrtn	UTSW	12	84,695,943 (GRCm39)	missense	probably damaging	0.99
R0044:Vrtn	UTSW	12	84,695,379 (GRCm39)	missense	probably damaging	1.00
R1546:Vrtn	UTSW	12	84,695,282 (GRCm39)	missense	probably damaging	1.00
R1584:Vrtn	UTSW	12	84,696,855 (GRCm39)	missense	probably damaging	1.00
R1693:Vrtn	UTSW	12	84,695,429 (GRCm39)	missense	probably benign	0.03
R1773:Vrtn	UTSW	12	84,696,998 (GRCm39)	missense	probably damaging	0.98
R1951:Vrtn	UTSW	12	84,695,973 (GRCm39)	missense	probably damaging	1.00
R2143:Vrtn	UTSW	12	84,696,936 (GRCm39)	missense	probably benign	0.00
R4044:Vrtn	UTSW	12	84,695,844 (GRCm39)	missense	probably damaging	1.00
R4777:Vrtn	UTSW	12	84,695,600 (GRCm39)	missense	probably damaging	1.00
R4835:Vrtn	UTSW	12	84,696,468 (GRCm39)	missense	probably damaging	0.97
R5076:Vrtn	UTSW	12	84,696,248 (GRCm39)	missense	probably damaging	1.00
R5783:Vrtn	UTSW	12	84,697,251 (GRCm39)	missense	probably benign	0.31
R5831:Vrtn	UTSW	12	84,695,349 (GRCm39)	missense	probably damaging	1.00
R6349:Vrtn	UTSW	12	84,695,792 (GRCm39)	missense	probably damaging	1.00
R6499:Vrtn	UTSW	12	84,697,090 (GRCm39)	missense	probably benign	0.01
R6931:Vrtn	UTSW	12	84,697,016 (GRCm39)	missense	probably benign
R7192:Vrtn	UTSW	12	84,695,636 (GRCm39)	missense	probably damaging	0.98
R7789:Vrtn	UTSW	12	84,697,080 (GRCm39)	missense	probably benign
R8059:Vrtn	UTSW	12	84,696,690 (GRCm39)	missense	probably benign
R8095:Vrtn	UTSW	12	84,696,809 (GRCm39)	missense	probably damaging	1.00
R8096:Vrtn	UTSW	12	84,696,809 (GRCm39)	missense	probably damaging	1.00
R8136:Vrtn	UTSW	12	84,696,809 (GRCm39)	missense	probably damaging	1.00
R8142:Vrtn	UTSW	12	84,697,395 (GRCm39)	missense	probably damaging	1.00
R8557:Vrtn	UTSW	12	84,696,690 (GRCm39)	missense	probably benign
R9165:Vrtn	UTSW	12	84,697,251 (GRCm39)	missense	probably benign	0.31

Posted On

2015-12-18