Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01654:Cd151'

102923

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd151

Ensembl Gene

ENSMUSG00000025510

Gene Name

CD151 antigen

Synonyms

SFA-1, Tspan24, PETA-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL01654

Quality Score

Status

Chromosome

Chromosomal Location

141047305-141051386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141050275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 170 (I170N)

Ref Sequence

ENSEMBL: ENSMUSP00000136331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000043870] [ENSMUST00000053670] [ENSMUST00000058746] [ENSMUST00000106000] [ENSMUST00000177840] [ENSMUST00000209892] [ENSMUST00000211071] [ENSMUST00000209988] [ENSMUST00000170879]

AlphaFold

O35566

Predicted Effect

probably benign
Transcript: ENSMUST00000026585

SMART Domains

Protein: ENSMUSP00000026585
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	4.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043870

SMART Domains

Protein: ENSMUSP00000043204
Gene: ENSMUSG00000038489

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_N	1	59	1.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053670

SMART Domains

Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	312	N/A	INTRINSIC
low complexity region	324	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058746
AA Change: I170N

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061636
Gene: ENSMUSG00000025510
AA Change: I170N

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.7e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097947

Predicted Effect

probably benign
Transcript: ENSMUST00000106000
AA Change: I170N

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510
AA Change: I170N

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116247

Predicted Effect

probably benign
Transcript: ENSMUST00000177840
AA Change: I170N

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510
AA Change: I170N

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209892
AA Change: I170N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167572

Predicted Effect

probably benign
Transcript: ENSMUST00000211071

Predicted Effect

probably benign
Transcript: ENSMUST00000209988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210308

Predicted Effect

probably benign
Transcript: ENSMUST00000170879

SMART Domains

Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene display increased bleeding time, impaired keratinocyte migration, hyperproliferation of stimulated T cells, impaired pathologic angiogenesis in several in vivo assays, and kidney abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,838 (GRCm39)	E68V	probably damaging	Het
Abcb1a	T	C	5: 8,765,065 (GRCm39)		probably null	Het
Abcg2	T	A	6: 58,660,306 (GRCm39)		probably null	Het
Adgrf5	T	C	17: 43,762,061 (GRCm39)	I1252T	possibly damaging	Het
Apol10b	A	T	15: 77,472,996 (GRCm39)	D19E	probably benign	Het
Bbs9	T	A	9: 22,402,238 (GRCm39)		probably null	Het
Bod1l	T	C	5: 41,975,519 (GRCm39)	T1932A	probably damaging	Het
C2cd5	A	G	6: 143,027,133 (GRCm39)	V124A	probably benign	Het
Ckap5	C	T	2: 91,407,954 (GRCm39)	H827Y	probably benign	Het
Clk3	C	T	9: 57,659,046 (GRCm39)	V572M	probably damaging	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Enpp5	A	G	17: 44,392,066 (GRCm39)	D165G	possibly damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Fbxw14	T	C	9: 109,115,648 (GRCm39)		probably benign	Het
Fes	C	T	7: 80,036,558 (GRCm39)		probably null	Het
Gemin4	A	T	11: 76,104,224 (GRCm39)	L179H	probably damaging	Het
Gm3327	A	G	14: 44,362,317 (GRCm39)	E72G	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Lonp2	T	C	8: 87,440,714 (GRCm39)	V357A	probably damaging	Het
Mc2r	A	G	18: 68,541,143 (GRCm39)	I50T	probably benign	Het
Mmp19	C	T	10: 128,634,389 (GRCm39)	A310V	probably damaging	Het
Naip6	C	T	13: 100,435,853 (GRCm39)	R890Q	probably benign	Het
Npdc1	T	C	2: 25,297,649 (GRCm39)	S101P	possibly damaging	Het
Phldb1	T	C	9: 44,629,654 (GRCm39)		probably null	Het
Pkd2l1	T	C	19: 44,142,662 (GRCm39)	N460S	probably damaging	Het
Pnpo	A	G	11: 96,834,555 (GRCm39)		probably null	Het
Prkcq	A	T	2: 11,288,654 (GRCm39)	T536S	probably damaging	Het
Rft1	T	A	14: 30,398,837 (GRCm39)	V269E	probably damaging	Het
Skint4	A	T	4: 111,977,254 (GRCm39)	I215F	probably damaging	Het
Slc12a5	G	A	2: 164,815,675 (GRCm39)	D41N	possibly damaging	Het
Srp68	T	C	11: 116,138,638 (GRCm39)		probably benign	Het
Wdr17	T	C	8: 55,115,914 (GRCm39)	T623A	probably damaging	Het
Zfand2a	A	G	5: 139,467,823 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,783,796 (GRCm39)	Y917C	probably damaging	Het
Zmym6	C	T	4: 127,017,519 (GRCm39)	S1008L	probably damaging	Het

Other mutations in Cd151

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Cd151	APN	7	141,050,370 (GRCm39)	missense	probably damaging	1.00
R0395:Cd151	UTSW	7	141,050,304 (GRCm39)	missense	probably damaging	1.00
R0526:Cd151	UTSW	7	141,050,504 (GRCm39)	missense	probably damaging	0.99
R1173:Cd151	UTSW	7	141,050,569 (GRCm39)	missense	probably damaging	1.00
R1436:Cd151	UTSW	7	141,049,197 (GRCm39)	missense	probably damaging	0.96
R1510:Cd151	UTSW	7	141,050,280 (GRCm39)	missense	probably benign	0.01
R2847:Cd151	UTSW	7	141,049,463 (GRCm39)	missense	probably damaging	1.00
R5193:Cd151	UTSW	7	141,050,606 (GRCm39)	missense	probably damaging	1.00
R7362:Cd151	UTSW	7	141,049,502 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21