Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02566:Vps35l'

298824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps35l

Ensembl Gene

ENSMUSG00000030982

Gene Name

VPS35 endosomal protein sorting factor like

Synonyms

9030624J02Rik, Vsp35l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02566

Quality Score

Status

Chromosome

Chromosomal Location

118339401-118440712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118352055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 154 (A154V)

Ref Sequence

ENSEMBL: ENSMUSP00000102162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059390] [ENSMUST00000106552] [ENSMUST00000106553] [ENSMUST00000175922]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059390
AA Change: A178V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: A178V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106552
AA Change: A154V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: A154V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106553
AA Change: A154V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: A154V

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: ENSMUST00000136623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148586

Predicted Effect

probably benign
Transcript: ENSMUST00000175922
AA Change: A149V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134956
Gene: ENSMUSG00000030982
AA Change: A149V

Domain	Start	End	E-Value	Type
low complexity region	42	71	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208483

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl4d	A	G	11: 101,557,980 (GRCm39)	S169G	probably damaging	Het
Bbx	A	T	16: 50,043,603 (GRCm39)		probably benign	Het
Blm	A	T	7: 80,123,944 (GRCm39)	M959K	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyb5d1	T	C	11: 69,284,594 (GRCm39)	N186S	probably benign	Het
Elk3	A	G	10: 93,101,325 (GRCm39)	L142P	probably damaging	Het
Gk5	G	A	9: 96,011,099 (GRCm39)	D70N	possibly damaging	Het
Gpr84	T	C	15: 103,217,150 (GRCm39)	D309G	probably benign	Het
Greb1l	T	C	18: 10,503,299 (GRCm39)	V450A	probably damaging	Het
Gucy1b1	A	G	3: 81,965,636 (GRCm39)	F70S	probably damaging	Het
Jmjd4	T	A	11: 59,345,880 (GRCm39)	M320K	probably damaging	Het
Map10	A	G	8: 126,398,494 (GRCm39)	N629S	probably benign	Het
Nmd3	G	T	3: 69,647,247 (GRCm39)		probably benign	Het
Obscn	G	T	11: 58,958,973 (GRCm39)	T3359K	probably damaging	Het
Or2t1	C	A	14: 14,328,138 (GRCm38)	T9K	probably benign	Het
Pkhd1l1	A	G	15: 44,389,450 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,314,183 (GRCm39)	F1212L	probably benign	Het
Rabep1	A	G	11: 70,808,540 (GRCm39)	S459G	probably damaging	Het
Septin4	T	G	11: 87,458,468 (GRCm39)	S281A	probably benign	Het
Slc26a1	A	G	5: 108,821,665 (GRCm39)	S75P	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sult1d1	A	T	5: 87,712,670 (GRCm39)	L58Q	probably damaging	Het
Tnrc18	A	T	5: 142,758,068 (GRCm39)		probably benign	Het
Zfp442	T	C	2: 150,251,711 (GRCm39)		probably null	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
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
R4964:Vps35l	UTSW	7	118,379,491 (GRCm39)	missense	possibly damaging	0.84
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

Posted On

2015-04-16