Mutagenetix > Incidental Mutation

Incidental Mutation 'R4777:Vrtn'

368046

Institutional Source

Beutler Lab

Gene Symbol

Vrtn

Ensembl Gene

ENSMUSG00000071235

Gene Name

vertebrae development associated

Synonyms

7420416P09Rik

MMRRC Submission

041992-MU

Accession Numbers

Essential gene?

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

Stock #

R4777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84641019-84651455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84648826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 117 (H117N)

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: H117N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: H117N

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: H117N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: H117N

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: H117N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: H117N

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: H117N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000222319

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 138,065,742 (GRCm38)	S231R	probably benign	Het
2010109I03Rik	T	C	15: 74,880,683 (GRCm38)	N48S	probably benign	Het
5730455P16Rik	A	T	11: 80,374,215 (GRCm38)	I137N	probably damaging	Het
Abhd10	G	A	16: 45,736,916 (GRCm38)	Q176*	probably null	Het
Acer3	T	C	7: 98,261,597 (GRCm38)	Y86C	probably damaging	Het
Ankrd36	T	C	11: 5,607,120 (GRCm38)	V356A	probably benign	Het
Atp1a1	A	G	3: 101,594,996 (GRCm38)		probably null	Het
Bmp8b	G	A	4: 123,122,000 (GRCm38)	R260Q	possibly damaging	Het
C2cd3	T	A	7: 100,416,332 (GRCm38)	V775D	possibly damaging	Het
Cacna1b	T	A	2: 24,732,325 (GRCm38)	I216F	probably damaging	Het
Capn5	T	A	7: 98,131,718 (GRCm38)	N284I	probably damaging	Het
Cbr1	C	A	16: 93,610,054 (GRCm38)	D219E	probably benign	Het
Cdca2	C	T	14: 67,713,140 (GRCm38)	R114Q	probably damaging	Het
Cdh7	G	A	1: 109,994,325 (GRCm38)	W49*	probably null	Het
Cep152	C	T	2: 125,564,095 (GRCm38)	V1506I	probably benign	Het
Cfap97	C	T	8: 46,195,297 (GRCm38)	Q537*	probably null	Het
Cpsf2	T	A	12: 101,996,832 (GRCm38)	V385E	probably damaging	Het
Dse	A	G	10: 34,153,588 (GRCm38)	V502A	possibly damaging	Het
Fam171a1	T	A	2: 3,223,513 (GRCm38)	F300L	probably benign	Het
Fnip1	T	G	11: 54,500,556 (GRCm38)	N438K	probably damaging	Het
Fstl5	C	T	3: 76,593,500 (GRCm38)	T412M	probably damaging	Het
Gm11938	T	A	11: 99,603,233 (GRCm38)	Q12L	unknown	Het
Hcls1	G	T	16: 36,955,316 (GRCm38)	A171S	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 117,975,733 (GRCm38)		probably benign	Het
Hydin	G	T	8: 110,410,464 (GRCm38)	C633F	probably damaging	Het
Ica1	A	T	6: 8,644,145 (GRCm38)	D381E	probably benign	Het
Ift74	A	G	4: 94,652,997 (GRCm38)	K220E	probably benign	Het
Igfn1	A	T	1: 135,954,862 (GRCm38)	D2748E	probably benign	Het
Il16	A	C	7: 83,650,896 (GRCm38)	D396E	probably benign	Het
Impdh1	G	T	6: 29,205,202 (GRCm38)	A200E	possibly damaging	Het
Itga4	C	T	2: 79,313,710 (GRCm38)	T647I	possibly damaging	Het
Jpt1	A	T	11: 115,500,671 (GRCm38)	M104K	probably benign	Het
Krt73	C	A	15: 101,794,001 (GRCm38)	A476S	probably benign	Het
Lama3	T	C	18: 12,413,771 (GRCm38)	Y363H	probably damaging	Het
Lgr4	C	T	2: 109,996,682 (GRCm38)	P177L	probably damaging	Het
Lrp2	T	C	2: 69,482,264 (GRCm38)	D2560G	probably damaging	Het
Macf1	A	T	4: 123,376,502 (GRCm38)	F6617I	probably damaging	Het
Mcf2l	T	A	8: 13,018,051 (GRCm38)		probably null	Het
Mcub	T	A	3: 129,969,951 (GRCm38)	Q42L	probably damaging	Het
Mfsd9	C	T	1: 40,781,540 (GRCm38)	V150I	possibly damaging	Het
Myo15b	T	C	11: 115,879,652 (GRCm38)	V96A	probably damaging	Het
Nfkb2	G	T	19: 46,307,567 (GRCm38)	E170D	probably benign	Het
Olfr398	A	G	11: 73,984,395 (GRCm38)	V71A	probably benign	Het
Olfr432	T	G	1: 174,050,678 (GRCm38)	Y102D	probably damaging	Het
Olfr981	T	C	9: 40,022,698 (GRCm38)	F102L	possibly damaging	Het
Pinlyp	T	A	7: 24,542,143 (GRCm38)	I153F	possibly damaging	Het
Plk2	A	C	13: 110,397,773 (GRCm38)	M296L	probably benign	Het
Plvap	T	C	8: 71,507,986 (GRCm38)	Y262C	probably benign	Het
Ppfia3	C	A	7: 45,341,157 (GRCm38)	G1066V	probably damaging	Het
Prokr1	A	G	6: 87,588,860 (GRCm38)	M1T	probably null	Het
Ptgs2	G	T	1: 150,105,387 (GRCm38)	A474S	probably benign	Het
Pth2r	A	G	1: 65,388,517 (GRCm38)	T450A	possibly damaging	Het
Ranbp6	A	T	19: 29,811,637 (GRCm38)	F438L	probably damaging	Het
Ripor1	A	T	8: 105,614,990 (GRCm38)	Q102L	probably damaging	Het
Rprd2	C	T	3: 95,787,374 (GRCm38)	V116I	probably benign	Het
Sacs	T	C	14: 61,211,809 (GRCm38)	V3768A	probably damaging	Het
Scn8a	T	C	15: 101,015,951 (GRCm38)	Y1075H	probably damaging	Het
Senp3	C	T	11: 69,678,237 (GRCm38)	G366D	probably damaging	Het
Smim1	T	C	4: 154,023,650 (GRCm38)		probably benign	Het
Sptan1	A	G	2: 29,996,435 (GRCm38)	I817V	probably damaging	Het
Stag3	A	T	5: 138,309,199 (GRCm38)		probably benign	Het
Stk17b	A	T	1: 53,771,708 (GRCm38)	H79Q	probably damaging	Het
Svil	A	G	18: 5,088,813 (GRCm38)	K1296E	probably damaging	Het
Tmem117	T	A	15: 95,094,450 (GRCm38)	Y330*	probably null	Het
Tmem8	T	C	17: 26,121,541 (GRCm38)	V633A	probably damaging	Het
Tnxb	G	T	17: 34,671,943 (GRCm38)	R420L	probably damaging	Het
Trim9	C	A	12: 70,347,071 (GRCm38)	C33F	probably damaging	Het
Usp29	A	C	7: 6,962,748 (GRCm38)	Y530S	probably benign	Het
Vps26b	T	C	9: 27,010,456 (GRCm38)	T258A	possibly damaging	Het
Wdr33	C	T	18: 31,881,248 (GRCm38)	H388Y	probably damaging	Het
Zfp451	A	T	1: 33,782,105 (GRCm38)	V222D	possibly damaging	Het
Zfp953	A	G	13: 67,343,129 (GRCm38)	I253T	probably benign	Het
Zfy2	A	G	Y: 2,116,194 (GRCm38)	V282A	probably benign	Het
Zscan29	A	T	2: 121,169,324 (GRCm38)	V132D	probably damaging	Het
Zswim4	G	T	8: 84,236,957 (GRCm38)	D16E	probably benign	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
R0044:Vrtn	UTSW	12	84,648,605 (GRCm38)	missense	probably damaging	1.00
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
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'- GCCAAGCAGGTCCTATCTTC -3'
(R):5'- ACATTGGAGAAGCTCGTTGG -3'

Sequencing Primer
(F):5'- CTTCCCATCTGCCAGAAGG -3'
(R):5'- TCGTTGGGAAGCACGTAGC -3'

Posted On

2015-12-29