Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02691:Scamp5'

303734

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scamp5

Ensembl Gene

ENSMUSG00000040722

Gene Name

secretory carrier membrane protein 5

Synonyms

Sc5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

57348610-57375343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57358660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 39 (R39S)

Ref Sequence

ENSEMBL: ENSMUSP00000150867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046587] [ENSMUST00000213771] [ENSMUST00000214256] [ENSMUST00000215059] [ENSMUST00000215734]

AlphaFold

Q9JKD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046587
AA Change: R39S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035898
Gene: ENSMUSG00000040722
AA Change: R39S

Domain	Start	End	E-Value	Type
Pfam:SCAMP	5	179	2.1e-69	PFAM
low complexity region	201	218	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213771
AA Change: R39S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214256
AA Change: R39S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000215059
AA Change: A38E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215208

Predicted Effect

probably damaging
Transcript: ENSMUST00000215734
AA Change: R39S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Scamp (secretory carrier membrane protein) family. The encoded protein may be involved in neuronal vesicle trafficking. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,655,457 (GRCm39)	S40P	probably benign	Het
Actl9	G	T	17: 33,652,092 (GRCm39)	V51L	probably damaging	Het
Adcy6	A	T	15: 98,502,185 (GRCm39)	F143Y	probably damaging	Het
Agps	A	T	2: 75,722,204 (GRCm39)	I465F	probably benign	Het
Armc3	T	A	2: 19,240,295 (GRCm39)	F17L	probably damaging	Het
Arsk	A	C	13: 76,223,069 (GRCm39)	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,556 (GRCm39)	T212I	probably damaging	Het
Atp6v1a	A	G	16: 43,931,982 (GRCm39)	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,744,565 (GRCm39)	L2Q	unknown	Het
Cad	A	G	5: 31,212,638 (GRCm39)	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,414,342 (GRCm39)	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,789,547 (GRCm39)	I834T	probably benign	Het
Cyp2j12	C	T	4: 96,021,231 (GRCm39)		probably null	Het
Dhx8	G	A	11: 101,642,830 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,800,767 (GRCm39)		probably benign	Het
Ell2	T	A	13: 75,904,605 (GRCm39)	D99E	probably damaging	Het
Enpp1	G	T	10: 24,587,790 (GRCm39)	P34T	probably damaging	Het
Fras1	T	A	5: 96,892,564 (GRCm39)	V2888E	possibly damaging	Het
Gmfg	A	G	7: 28,144,295 (GRCm39)	Y40C	probably damaging	Het
Gnal	T	C	18: 67,355,746 (GRCm39)	I369T	probably damaging	Het
Gzmn	T	C	14: 56,404,370 (GRCm39)	T156A	probably benign	Het
H2-DMb2	A	T	17: 34,366,832 (GRCm39)	H88L	probably benign	Het
Ighv7-3	T	C	12: 114,117,016 (GRCm39)	T49A	probably benign	Het
Jakmip3	C	T	7: 138,628,573 (GRCm39)	Q450*	probably null	Het
Klhl20	A	T	1: 160,934,444 (GRCm39)		probably benign	Het
Klk6	A	G	7: 43,477,924 (GRCm39)	T99A	probably benign	Het
Lhx3	A	G	2: 26,093,097 (GRCm39)	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,803,655 (GRCm39)		probably benign	Het
Naa15	A	G	3: 51,358,747 (GRCm39)	E294G	probably damaging	Het
Nfia	C	T	4: 97,970,045 (GRCm39)	Q373*	probably null	Het
Notch2	C	A	3: 98,042,923 (GRCm39)	Y1429*	probably null	Het
Oc90	A	G	15: 65,754,410 (GRCm39)	S252P	probably damaging	Het
Or56a3b	A	G	7: 104,771,338 (GRCm39)	I225V	probably damaging	Het
Or8k37	T	C	2: 86,469,182 (GRCm39)	Y290C	probably damaging	Het
Pde3b	T	A	7: 114,107,320 (GRCm39)		probably benign	Het
Pdss1	G	A	2: 22,805,253 (GRCm39)	V211I	probably benign	Het
Phactr1	G	T	13: 43,231,213 (GRCm39)	M226I	probably benign	Het
Phf11c	A	G	14: 59,622,236 (GRCm39)	S259P	probably damaging	Het
Phf20l1	A	G	15: 66,476,713 (GRCm39)	N269S	probably damaging	Het
Piezo1	A	G	8: 123,228,688 (GRCm39)	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,541,444 (GRCm39)	K997R	probably benign	Het
Ppm1m	A	T	9: 106,072,568 (GRCm39)	V449E	probably damaging	Het
Ppp1r36dn	T	C	12: 76,498,073 (GRCm39)		noncoding transcript	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rgs14	A	G	13: 55,526,836 (GRCm39)		probably null	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc5a6	C	T	5: 31,199,518 (GRCm39)	V15I	probably damaging	Het
Snx25	A	T	8: 46,558,302 (GRCm39)	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,832,284 (GRCm39)	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544 (GRCm39)	R1593G	probably benign	Het
Trdv2-2	T	C	14: 54,199,039 (GRCm39)	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,466,949 (GRCm39)	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,971,140 (GRCm39)	L592R	probably damaging	Het
Vipr2	T	A	12: 116,099,849 (GRCm39)	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,579,428 (GRCm39)	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,001,373 (GRCm39)	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,672,120 (GRCm39)	I619T	probably benign	Het

Other mutations in Scamp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1636:Scamp5	UTSW	9	57,358,692 (GRCm39)	missense	possibly damaging	0.80
R2119:Scamp5	UTSW	9	57,354,508 (GRCm39)	missense	possibly damaging	0.61
R2120:Scamp5	UTSW	9	57,354,508 (GRCm39)	missense	possibly damaging	0.61
R2124:Scamp5	UTSW	9	57,354,508 (GRCm39)	missense	possibly damaging	0.61
R2280:Scamp5	UTSW	9	57,352,722 (GRCm39)	missense	probably benign	0.18
R2906:Scamp5	UTSW	9	57,351,146 (GRCm39)	missense	probably damaging	1.00
R4766:Scamp5	UTSW	9	57,359,319 (GRCm39)	critical splice acceptor site	probably null
R4911:Scamp5	UTSW	9	57,358,735 (GRCm39)	missense	probably damaging	1.00
R5414:Scamp5	UTSW	9	57,354,507 (GRCm39)	missense	probably benign
R5698:Scamp5	UTSW	9	57,352,716 (GRCm39)	missense	possibly damaging	0.72
R5783:Scamp5	UTSW	9	57,353,353 (GRCm39)	critical splice donor site	probably null
R6520:Scamp5	UTSW	9	57,354,489 (GRCm39)	splice site	probably null
R7234:Scamp5	UTSW	9	57,354,423 (GRCm39)	missense	probably damaging	1.00
R7703:Scamp5	UTSW	9	57,354,465 (GRCm39)	missense	possibly damaging	0.89
R8071:Scamp5	UTSW	9	57,350,969 (GRCm39)	missense	probably damaging	1.00
R8905:Scamp5	UTSW	9	57,352,669 (GRCm39)	missense	probably benign	0.01
Z1177:Scamp5	UTSW	9	57,350,959 (GRCm39)	missense	probably benign

Posted On

2015-04-16