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

067570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R8142 (G1)

Quality Score

142.008

Status

Not validated

Chromosome

Chromosomal Location

84687793-84698229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84697395 bp (GRCm39)

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: 87,252,083 (GRCm39)	I105N	possibly damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,909,465 (GRCm39)	S980P	probably damaging	Het
Ccno	T	G	13: 113,125,489 (GRCm39)	L151R	probably damaging	Het
Cdh2	A	C	18: 16,734,791 (GRCm39)	I801S	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dab1	T	A	4: 104,535,921 (GRCm39)	V110D	probably damaging	Het
Dnah3	T	C	7: 119,660,189 (GRCm39)	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,519 (GRCm39)	V3088L	probably benign	Het
Dtd2	T	A	12: 52,046,593 (GRCm39)	D82V	probably damaging	Het
Dusp5	T	C	19: 53,525,912 (GRCm39)	F185L	probably damaging	Het
Epha10	A	G	4: 124,779,639 (GRCm39)	T162A	probably damaging	Het
Fat4	A	T	3: 38,945,352 (GRCm39)	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,813,247 (GRCm39)	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,122,782 (GRCm39)	E1651*	probably null	Het
Ifit3	G	T	19: 34,564,901 (GRCm39)	C149F	probably damaging	Het
Lepr	C	A	4: 101,622,616 (GRCm39)	H465Q	possibly damaging	Het
Ltn1	A	C	16: 87,178,529 (GRCm39)	S1567A	probably benign	Het
Marchf1	T	C	8: 66,908,778 (GRCm39)	V166A	probably benign	Het
Marveld2	T	C	13: 100,737,448 (GRCm39)	H424R	possibly damaging	Het
Mypop	A	G	7: 18,735,051 (GRCm39)	T383A	unknown	Het
Ngef	G	C	1: 87,468,463 (GRCm39)	R99G	probably benign	Het
Nherf4	A	G	9: 44,162,078 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,109,398 (GRCm39)	A726D	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,519 (GRCm39)	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,854,166 (GRCm39)	D187G	probably damaging	Het
Per2	T	C	1: 91,349,269 (GRCm39)	E1034G	possibly damaging	Het
Pira1	A	G	7: 3,739,842 (GRCm39)	S418P	possibly damaging	Het
Pkhd1l1	G	A	15: 44,378,327 (GRCm39)	R1027H	probably benign	Het
Pon2	A	T	6: 5,266,239 (GRCm39)	V260D	probably benign	Het
Rnase13	A	G	14: 52,159,893 (GRCm39)	I82T	probably damaging	Het
Sbno1	A	G	5: 124,546,608 (GRCm39)	S194P	probably benign	Het
Serpinb6c	T	A	13: 34,064,096 (GRCm39)	I320L	probably benign	Het
Sh3rf3	C	T	10: 58,885,205 (GRCm39)	R363*	probably null	Het
Slc11a1	T	C	1: 74,424,418 (GRCm39)	F500L	probably benign	Het
Slc1a4	A	G	11: 20,257,890 (GRCm39)		probably null	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Sorcs2	T	C	5: 36,219,958 (GRCm39)	N362S	possibly damaging	Het
Stau2	A	G	1: 16,530,575 (GRCm39)	S115P	unknown	Het
Stk38l	A	G	6: 146,660,070 (GRCm39)	N34S	probably benign	Het
Tmem201	T	C	4: 149,803,114 (GRCm39)	T585A	probably benign	Het
Ttc6	A	T	12: 57,744,258 (GRCm39)	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,532,655 (GRCm39)	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,651,564 (GRCm39)	I293V		Het
Vps11	T	C	9: 44,265,852 (GRCm39)	T476A	probably benign	Het
Wdr72	T	G	9: 74,046,949 (GRCm39)	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,752,675 (GRCm39)	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,302,493 (GRCm39)	S16*	probably null	Het
Zfhx2	G	A	14: 55,310,895 (GRCm39)	L600F	possibly 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
IGL02947:Vrtn	APN	12	84,695,258 (GRCm39)	missense	probably damaging	0.98
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
R8557:Vrtn	UTSW	12	84,696,690 (GRCm39)	missense	probably benign
R9165:Vrtn	UTSW	12	84,697,251 (GRCm39)	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