Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Skap1'

457317

Institutional Source

Beutler Lab

Gene Symbol

Skap1

Ensembl Gene

ENSMUSG00000057058

Gene Name

src family associated phosphoprotein 1

Synonyms

1700091G21Rik, Skap-55

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96355419-96649956 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 96472224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 166 (*166Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154] [ENSMUST00000107662] [ENSMUST00000107663]

AlphaFold

Q3UUV5

Predicted Effect

probably benign
Transcript: ENSMUST00000071510

SMART Domains

Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058

Domain	Start	End	E-Value	Type
low complexity region	59	74	N/A	INTRINSIC
PH	108	212	1.46e-24	SMART
low complexity region	220	235	N/A	INTRINSIC
SH3	277	334	2.56e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100521

SMART Domains

Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058

Domain	Start	End	E-Value	Type
low complexity region	59	74	N/A	INTRINSIC
PH	108	212	1.46e-24	SMART
low complexity region	220	235	N/A	INTRINSIC
SH3	277	314	2.64e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103154

SMART Domains

Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058

Domain	Start	End	E-Value	Type
low complexity region	59	74	N/A	INTRINSIC
PH	108	212	1.46e-24	SMART
low complexity region	220	235	N/A	INTRINSIC
low complexity region	271	280	N/A	INTRINSIC
SH3	293	350	2.56e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107662
AA Change: *166Q

SMART Domains

Protein: ENSMUSP00000103289
Gene: ENSMUSG00000057058
AA Change: *166Q

Domain	Start	End	E-Value	Type
Blast:PH	40	114	5e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000107663

SMART Domains

Protein: ENSMUSP00000103290
Gene: ENSMUSG00000057058

Domain	Start	End	E-Value	Type
PDB:2OTX\|B	7	57	1e-6	PDB
Blast:PH	40	94	7e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136836

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased T cell aggregation, adhesion and proliferation following stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	Het

Other mutations in Skap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Skap1	APN	11	96,380,736 (GRCm39)	missense	probably damaging	1.00
IGL00565:Skap1	APN	11	96,622,016 (GRCm39)	missense	probably damaging	1.00
IGL00565:Skap1	APN	11	96,621,971 (GRCm39)	missense	probably damaging	1.00
IGL02351:Skap1	APN	11	96,599,382 (GRCm39)	splice site	probably null
IGL02474:Skap1	APN	11	96,599,512 (GRCm39)	missense	probably damaging	0.98
IGL02797:Skap1	APN	11	96,603,843 (GRCm39)	missense	possibly damaging	0.78
IGL03025:Skap1	APN	11	96,593,508 (GRCm39)	missense	probably damaging	1.00
IGL03115:Skap1	APN	11	96,593,446 (GRCm39)	missense	probably benign	0.00
R0601:Skap1	UTSW	11	96,614,236 (GRCm39)	splice site	probably benign
R0741:Skap1	UTSW	11	96,383,759 (GRCm39)	intron	probably benign
R0946:Skap1	UTSW	11	96,432,295 (GRCm39)	nonsense	probably null
R2051:Skap1	UTSW	11	96,432,289 (GRCm39)	missense	possibly damaging	0.89
R2132:Skap1	UTSW	11	96,355,559 (GRCm39)	missense	possibly damaging	0.95
R4130:Skap1	UTSW	11	96,416,871 (GRCm39)	missense	probably damaging	1.00
R4923:Skap1	UTSW	11	96,644,870 (GRCm39)	missense	probably damaging	1.00
R6207:Skap1	UTSW	11	96,594,959 (GRCm39)	nonsense	probably null
R6577:Skap1	UTSW	11	96,416,870 (GRCm39)	missense	probably damaging	1.00
R7158:Skap1	UTSW	11	96,416,883 (GRCm39)	missense	possibly damaging	0.77
R8912:Skap1	UTSW	11	96,644,902 (GRCm39)	missense	probably damaging	0.98
R9377:Skap1	UTSW	11	96,644,921 (GRCm39)	missense	possibly damaging	0.79
R9576:Skap1	UTSW	11	96,472,030 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGGCATCTAGAAAATGCTC -3'
(R):5'- CGCACATAGGGCTTTTACAGG -3'

Sequencing Primer
(F):5'- GCATCTAGAAAATGCTCCACTTCCTG -3'
(R):5'- CTCTTTCTACAGCCAAAATGGG -3'

Posted On

2017-02-15