Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Vps35l'

383788

Institutional Source

Beutler Lab

Gene Symbol

Vps35l

Ensembl Gene

ENSMUSG00000030982

Gene Name

VPS35 endosomal protein sorting factor like

Synonyms

9030624J02Rik, Vsp35l

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4964 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

118339401-118440712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118379491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 426 (I426T)

Ref Sequence

ENSEMBL: ENSMUSP00000051263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033280] [ENSMUST00000059390] [ENSMUST00000106552] [ENSMUST00000106553]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033280
AA Change: I163T

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059390
AA Change: I426T

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: I426T

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106552

SMART Domains

Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982

Domain	Start	End	E-Value	Type
low complexity region	47	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106553
AA Change: I402T

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: I402T

Domain	Start	End	E-Value	Type
low complexity region	47	76	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207311

Meta Mutation Damage Score

0.2133

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het

Other mutations in Vps35l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vps35l	APN	7	118,396,270 (GRCm39)	critical splice donor site	probably null
IGL00229:Vps35l	APN	7	118,403,414 (GRCm39)	splice site	probably benign
IGL01066:Vps35l	APN	7	118,372,234 (GRCm39)	splice site	probably null
IGL01433:Vps35l	APN	7	118,373,274 (GRCm39)	splice site	probably null
IGL02381:Vps35l	APN	7	118,374,598 (GRCm39)	missense	probably damaging	1.00
IGL02566:Vps35l	APN	7	118,352,055 (GRCm39)	missense	probably benign	0.04
IGL03199:Vps35l	APN	7	118,365,611 (GRCm39)	missense	probably benign	0.18
IGL03224:Vps35l	APN	7	118,391,776 (GRCm39)	unclassified	probably benign
R0535:Vps35l	UTSW	7	118,347,404 (GRCm39)	missense	possibly damaging	0.95
R1109:Vps35l	UTSW	7	118,374,552 (GRCm39)	missense	probably damaging	0.97
R1378:Vps35l	UTSW	7	118,393,796 (GRCm39)	missense	probably damaging	1.00
R1378:Vps35l	UTSW	7	118,393,795 (GRCm39)	nonsense	probably null
R1412:Vps35l	UTSW	7	118,409,194 (GRCm39)	missense	probably damaging	0.99
R1474:Vps35l	UTSW	7	118,359,436 (GRCm39)	missense	probably damaging	1.00
R1586:Vps35l	UTSW	7	118,409,195 (GRCm39)	missense	probably damaging	1.00
R1785:Vps35l	UTSW	7	118,393,798 (GRCm39)	missense	probably damaging	1.00
R1786:Vps35l	UTSW	7	118,393,798 (GRCm39)	missense	probably damaging	1.00
R1921:Vps35l	UTSW	7	118,432,971 (GRCm39)	missense	probably damaging	0.98
R1971:Vps35l	UTSW	7	118,374,557 (GRCm39)	missense	probably damaging	1.00
R2038:Vps35l	UTSW	7	118,411,097 (GRCm39)	missense	probably damaging	0.98
R2107:Vps35l	UTSW	7	118,393,762 (GRCm39)	unclassified	probably benign
R2130:Vps35l	UTSW	7	118,393,798 (GRCm39)	missense	probably damaging	1.00
R2131:Vps35l	UTSW	7	118,393,798 (GRCm39)	missense	probably damaging	1.00
R2132:Vps35l	UTSW	7	118,393,798 (GRCm39)	missense	probably damaging	1.00
R2133:Vps35l	UTSW	7	118,393,798 (GRCm39)	missense	probably damaging	1.00
R2405:Vps35l	UTSW	7	118,391,818 (GRCm39)	missense	probably damaging	1.00
R2411:Vps35l	UTSW	7	118,391,818 (GRCm39)	missense	probably damaging	1.00
R3910:Vps35l	UTSW	7	118,345,613 (GRCm39)	missense	possibly damaging	0.86
R3911:Vps35l	UTSW	7	118,345,613 (GRCm39)	missense	possibly damaging	0.86
R3912:Vps35l	UTSW	7	118,345,613 (GRCm39)	missense	possibly damaging	0.86
R3971:Vps35l	UTSW	7	118,433,022 (GRCm39)	missense	probably damaging	0.98
R4697:Vps35l	UTSW	7	118,390,671 (GRCm39)	missense	probably damaging	1.00
R4980:Vps35l	UTSW	7	118,406,232 (GRCm39)	missense	probably damaging	1.00
R5034:Vps35l	UTSW	7	118,390,611 (GRCm39)	missense	probably damaging	0.99
R5309:Vps35l	UTSW	7	118,412,799 (GRCm39)	missense	probably damaging	1.00
R5312:Vps35l	UTSW	7	118,412,799 (GRCm39)	missense	probably damaging	1.00
R5743:Vps35l	UTSW	7	118,396,234 (GRCm39)	missense	possibly damaging	0.89
R6017:Vps35l	UTSW	7	118,409,144 (GRCm39)	missense	probably damaging	1.00
R6089:Vps35l	UTSW	7	118,345,658 (GRCm39)	missense	possibly damaging	0.76
R6320:Vps35l	UTSW	7	118,353,072 (GRCm39)	missense	probably benign	0.08
R6415:Vps35l	UTSW	7	118,391,869 (GRCm39)	missense	probably damaging	1.00
R6861:Vps35l	UTSW	7	118,342,898 (GRCm39)	missense	probably damaging	1.00
R7034:Vps35l	UTSW	7	118,372,315 (GRCm39)	missense	probably damaging	1.00
R7036:Vps35l	UTSW	7	118,372,315 (GRCm39)	missense	probably damaging	1.00
R7339:Vps35l	UTSW	7	118,409,194 (GRCm39)	missense	probably damaging	0.99
R7456:Vps35l	UTSW	7	118,403,340 (GRCm39)	missense	probably benign	0.01
R7493:Vps35l	UTSW	7	118,393,800 (GRCm39)	splice site	probably null
R8064:Vps35l	UTSW	7	118,353,147 (GRCm39)	missense	probably damaging	1.00
R8103:Vps35l	UTSW	7	118,342,855 (GRCm39)	missense	probably benign	0.19
R8279:Vps35l	UTSW	7	118,345,722 (GRCm39)	missense	probably benign
R8354:Vps35l	UTSW	7	118,391,795 (GRCm39)	missense	probably benign	0.07
R8454:Vps35l	UTSW	7	118,391,795 (GRCm39)	missense	probably benign	0.07
R8954:Vps35l	UTSW	7	118,393,801 (GRCm39)	missense	possibly damaging	0.94
R9450:Vps35l	UTSW	7	118,352,118 (GRCm39)	critical splice donor site	probably null
R9642:Vps35l	UTSW	7	118,437,451 (GRCm39)	missense	probably benign	0.00
R9667:Vps35l	UTSW	7	118,348,915 (GRCm39)	critical splice donor site	probably null
R9749:Vps35l	UTSW	7	118,352,107 (GRCm39)	missense	probably benign	0.03
X0028:Vps35l	UTSW	7	118,399,675 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAAAGCAGGCTGTTACCC -3'
(R):5'- CTGAAGCTGTTGGGAAGGAC -3'

Sequencing Primer
(F):5'- AGGCTGTTACCCTCGCATC -3'
(R):5'- CCCTGGGAATATTACAGGGCAC -3'

Posted On

2016-04-27