Mutagenetix > Incidental Mutation

Incidental Mutation 'RF035:Vat1l'

604533

Institutional Source

Beutler Lab

Gene Symbol

Vat1l

Ensembl Gene

ENSMUSG00000046844

Gene Name

vesicle amine transport protein 1 like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

RF035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114932352-115100811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115016069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 320 (L320F)

Ref Sequence

ENSEMBL: ENSMUSP00000053431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049509]

AlphaFold

Q80TB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049509
AA Change: L320F

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

SMART Domains

Protein: ENSMUSP00000053431
Gene: ENSMUSG00000046844
AA Change: L320F

Domain	Start	End	E-Value	Type
Pfam:ADH_N	66	142	3.9e-14	PFAM
Pfam:ADH_zinc_N	190	302	1.4e-11	PFAM
Pfam:ADH_zinc_N_2	221	376	1.1e-14	PFAM
low complexity region	389	408	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	T	TTTGGCTGCC	1: 82,891,310 (GRCm39)	probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCCGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)	probably benign	Het
AI837181	G	GGCT	19: 5,475,266 (GRCm39)	probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)	probably benign	Het
Amot	GGAGCAGCAA	G	X: 144,233,984 (GRCm39)	probably benign	Het
Bltp1	TAT	TATTATTATTATTATGAT	3: 37,104,907 (GRCm39)	probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,293 (GRCm39)	probably null	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)	probably benign	Het
Chga	G	GCAT	12: 102,527,686 (GRCm39)	probably benign	Het
E4f1	CGC	CGCTGC	17: 24,674,164 (GRCm39)	probably benign	Het
E4f1	CCG	CCGGCG	17: 24,674,169 (GRCm39)	probably benign	Het
Eps8	C	CTCAG	6: 137,494,068 (GRCm39)	probably null	Het
Exd2	GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC	GCAGCCACAGC	12: 80,522,674 (GRCm39)	probably benign	Het
Exd2	CAGCCAGAGC	CAGC	12: 80,522,729 (GRCm39)	probably benign	Het
Gm10447	AAAAAAAAAGAAAAA	AAAAAA	11: 53,347,165 (GRCm39)	probably benign	Het
Gm10521	CTCTCTCTCT	CTCTCTCTCTCTCT	1: 171,723,860 (GRCm39)	probably null	Het
Gm8369	TGTG	TGTGCGAGTG	19: 11,489,137 (GRCm39)	probably benign	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)	probably benign	Het
Ier5l	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 30,363,832 (GRCm39)	probably benign	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)	probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGTCACCACAGC	1: 83,020,002 (GRCm39)	probably benign	Het
Krtap28-10	CAG	CAGCCAAAG	1: 83,019,867 (GRCm39)	probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,530,501 (GRCm39)	probably null	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)	probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,456 (GRCm39)	probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,444 (GRCm39)	probably benign	Het
Manbal	CGATAGAAT	C	2: 157,237,932 (GRCm39)	probably null	Het
Map1a	GCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA	2: 121,136,782 (GRCm39)	probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,702,541 (GRCm39)	probably benign	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG	11: 4,891,039 (GRCm39)	probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)	probably benign	Het
Or2t49	TGGAGGTGGATTGG	TG	11: 58,393,208 (GRCm39)	probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)	probably benign	Het
Pdik1l	CCACCA	CCACCAACACCA	4: 134,006,821 (GRCm39)	probably benign	Het
Polr1has	CACCAC	CACCACCCCCACCACCACCACAACCAC	17: 37,275,958 (GRCm39)	probably benign	Het
Rassf6	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,767 (GRCm39)	probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)	probably benign	Het
Rgs22	GCTAAAAAAAAAAAAAAAAA	G	15: 36,010,981 (GRCm39)	probably benign	Het
Rpgrip1	AGG	AGGGGG	14: 52,386,850 (GRCm39)	probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC	15: 76,499,066 (GRCm39)	probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)	probably benign	Het
Strn	AGTC	AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC	17: 78,984,714 (GRCm39)	probably null	Het
Tcof1	AAGAT	AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT	18: 60,966,625 (GRCm39)	probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)	probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)	probably benign	Het
Trav6d-5	ATTTTT	ATTTTTTTTTT	14: 53,032,791 (GRCm39)	probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)	probably benign	Het
Tsen2	GGA	GGATGA	6: 115,537,028 (GRCm39)	probably benign	Het
Ttf2	TTCT	TTCTTCT	3: 100,870,473 (GRCm39)	probably benign	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)	probably benign	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)	probably benign	Het
Zfp933	TT	TTTGCGT	4: 147,910,188 (GRCm39)	probably null	Het

Other mutations in Vat1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Vat1l	APN	8	115,096,629 (GRCm39)	missense	possibly damaging	0.89
IGL03379:Vat1l	APN	8	115,009,006 (GRCm39)	missense	probably damaging	0.98
R0504:Vat1l	UTSW	8	114,963,319 (GRCm39)	splice site	probably benign
R1222:Vat1l	UTSW	8	115,009,101 (GRCm39)	splice site	probably benign
R1418:Vat1l	UTSW	8	115,009,101 (GRCm39)	splice site	probably benign
R1859:Vat1l	UTSW	8	114,998,041 (GRCm39)	missense	probably damaging	1.00
R3777:Vat1l	UTSW	8	114,963,540 (GRCm39)	critical splice donor site	probably null
R3778:Vat1l	UTSW	8	114,963,540 (GRCm39)	critical splice donor site	probably null
R4154:Vat1l	UTSW	8	114,932,543 (GRCm39)	missense	possibly damaging	0.94
R4158:Vat1l	UTSW	8	115,098,469 (GRCm39)	missense	probably benign	0.32
R4160:Vat1l	UTSW	8	115,098,469 (GRCm39)	missense	probably benign	0.32
R4285:Vat1l	UTSW	8	114,932,523 (GRCm39)	missense	probably damaging	0.97
R4507:Vat1l	UTSW	8	114,932,556 (GRCm39)	missense	probably benign	0.02
R5316:Vat1l	UTSW	8	115,011,088 (GRCm39)	missense	probably damaging	1.00
R6306:Vat1l	UTSW	8	115,098,391 (GRCm39)	missense	probably damaging	1.00
R7031:Vat1l	UTSW	8	114,998,172 (GRCm39)	missense	possibly damaging	0.60
R7162:Vat1l	UTSW	8	114,963,518 (GRCm39)	missense	probably damaging	0.99
R7378:Vat1l	UTSW	8	115,016,132 (GRCm39)	missense	possibly damaging	0.93
R7472:Vat1l	UTSW	8	114,963,539 (GRCm39)	critical splice donor site	probably null
R7662:Vat1l	UTSW	8	115,009,084 (GRCm39)	missense	probably damaging	1.00
R9269:Vat1l	UTSW	8	115,016,172 (GRCm39)	missense	probably damaging	1.00
RF032:Vat1l	UTSW	8	115,016,069 (GRCm39)	missense	probably damaging	1.00
X0062:Vat1l	UTSW	8	114,963,363 (GRCm39)	missense	probably damaging	1.00
X0062:Vat1l	UTSW	8	114,963,362 (GRCm39)	missense	probably damaging	1.00
Z1188:Vat1l	UTSW	8	114,932,463 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAAACTTTGCTTCCCTGGG -3'
(R):5'- CTGCTCTAGGACTTTTGTTTCAAAC -3'

Sequencing Primer
(F):5'- CCCTGGGGTAGATGATGTCCTC -3'
(R):5'- AATCTGGAGAAATAAAAATGGCTTTG -3'

Posted On

2019-12-04