Mutagenetix > Incidental Mutation

Incidental Mutation 'R6118:Skint4'

485202

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

9530098N22Rik

MMRRC Submission

044267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6118 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111929213-112025273 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 111977019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069769] [ENSMUST00000069769] [ENSMUST00000069769] [ENSMUST00000069769] [ENSMUST00000106564] [ENSMUST00000106564] [ENSMUST00000106564] [ENSMUST00000106564] [ENSMUST00000106565] [ENSMUST00000106565] [ENSMUST00000106566] [ENSMUST00000106566]

AlphaFold

A7TZF3

Predicted Effect

probably null
Transcript: ENSMUST00000069769

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000069769

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000069769

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000069769

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106564

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106564

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106564

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106564

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106565

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106565

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106566

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
IG	41	148	7.24e-10	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106566

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960

Domain	Start	End	E-Value	Type
IG	41	148	7.24e-10	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119233

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	G	10: 10,307,035 (GRCm39)	K316N	probably damaging	Het
Als2	A	T	1: 59,242,228 (GRCm39)	V609E	possibly damaging	Het
Ank3	A	G	10: 69,830,231 (GRCm39)	I71V	probably damaging	Het
Antxr2	T	A	5: 98,097,060 (GRCm39)	D351V	probably damaging	Het
Arel1	A	G	12: 84,988,713 (GRCm39)	V12A	possibly damaging	Het
Atad1	C	T	19: 32,664,697 (GRCm39)	R239H	possibly damaging	Het
B3galnt2	A	G	13: 14,166,094 (GRCm39)	T330A	probably damaging	Het
Bag6	T	A	17: 35,362,600 (GRCm39)	I636N	probably damaging	Het
C1qtnf6	T	C	15: 78,409,595 (GRCm39)	D84G	probably damaging	Het
Ceacam20	T	C	7: 19,705,654 (GRCm39)	V215A	possibly damaging	Het
Chtf18	C	T	17: 25,938,133 (GRCm39)	D967N	probably damaging	Het
Cntnap2	T	A	6: 47,170,011 (GRCm39)	I1159K	possibly damaging	Het
Col2a1	T	C	15: 97,896,448 (GRCm39)	D67G	unknown	Het
Csde1	T	A	3: 102,962,070 (GRCm39)	V627E	probably benign	Het
Epb41l1	G	A	2: 156,364,397 (GRCm39)	E969K	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Gabbr2	C	T	4: 46,736,459 (GRCm39)	R474Q	probably damaging	Het
H2bc18	T	A	3: 96,177,267 (GRCm39)	V67E	probably damaging	Het
Hap1	G	T	11: 100,246,620 (GRCm39)	T95N	probably benign	Het
Jmjd1c	A	G	10: 67,075,791 (GRCm39)	K1886R	probably damaging	Het
Kndc1	A	G	7: 139,503,717 (GRCm39)	D1007G	probably damaging	Het
Mcm2	C	T	6: 88,864,818 (GRCm39)	A553T	probably damaging	Het
Memo1	T	C	17: 74,509,302 (GRCm39)	Y239C	possibly damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Obsl1	A	G	1: 75,468,722 (GRCm39)		probably benign	Het
Or4c107	T	A	2: 88,789,462 (GRCm39)	Y217*	probably null	Het
Or8k35	T	A	2: 86,424,758 (GRCm39)	H138L	probably benign	Het
Pold3	A	G	7: 99,745,614 (GRCm39)	S180P	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,135 (GRCm39)	S665P	probably benign	Het
Rfc4	A	T	16: 22,939,693 (GRCm39)	S86T	probably damaging	Het
Rfx6	T	A	10: 51,587,962 (GRCm39)	N277K	possibly damaging	Het
Ryr2	C	A	13: 11,807,575 (GRCm39)	V865F	possibly damaging	Het
Slc38a10	T	C	11: 120,023,669 (GRCm39)	Y249C	probably damaging	Het
Slco1b2	A	G	6: 141,603,236 (GRCm39)	T206A	probably benign	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tbc1d1	C	T	5: 64,441,380 (GRCm39)	L655F	probably damaging	Het
Tpp2	A	T	1: 43,979,306 (GRCm39)	I68F	probably damaging	Het
Trim30c	G	T	7: 104,031,288 (GRCm39)	T509K	probably benign	Het
Zfp827	G	T	8: 79,803,067 (GRCm39)	K546N	possibly damaging	Het

Other mutations in Skint4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Skint4	APN	4	111,977,207 (GRCm39)	missense	possibly damaging	0.86
IGL01654:Skint4	APN	4	111,977,254 (GRCm39)	missense	probably damaging	0.99
IGL02040:Skint4	APN	4	112,003,679 (GRCm39)	splice site	probably benign
IGL02328:Skint4	APN	4	111,977,255 (GRCm39)	missense	possibly damaging	0.92
IGL02811:Skint4	APN	4	111,944,200 (GRCm39)	missense	possibly damaging	0.86
IGL02965:Skint4	APN	4	111,993,218 (GRCm39)	missense	probably benign	0.01
IGL03039:Skint4	APN	4	111,981,847 (GRCm39)	missense	probably benign	0.20
IGL03060:Skint4	APN	4	111,975,432 (GRCm39)	missense	probably benign	0.33
IGL03075:Skint4	APN	4	111,944,239 (GRCm39)	missense	probably damaging	1.00
IGL03352:Skint4	APN	4	112,022,883 (GRCm39)	missense	possibly damaging	0.96
PIT4378001:Skint4	UTSW	4	111,944,232 (GRCm39)	missense	probably benign	0.01
R0483:Skint4	UTSW	4	111,975,136 (GRCm39)	splice site	probably benign
R1175:Skint4	UTSW	4	111,981,793 (GRCm39)	missense	probably benign	0.14
R1446:Skint4	UTSW	4	111,975,311 (GRCm39)	missense	probably benign	0.11
R1641:Skint4	UTSW	4	111,993,240 (GRCm39)	missense	possibly damaging	0.93
R1983:Skint4	UTSW	4	112,003,689 (GRCm39)	missense	probably benign	0.00
R2168:Skint4	UTSW	4	111,944,183 (GRCm39)	critical splice acceptor site	probably null
R2272:Skint4	UTSW	4	111,977,065 (GRCm39)	missense	probably benign	0.01
R2287:Skint4	UTSW	4	111,975,402 (GRCm39)	missense	possibly damaging	0.70
R3801:Skint4	UTSW	4	111,975,378 (GRCm39)	missense	probably damaging	0.98
R3802:Skint4	UTSW	4	111,975,378 (GRCm39)	missense	probably damaging	0.98
R3804:Skint4	UTSW	4	111,975,378 (GRCm39)	missense	probably damaging	0.98
R4009:Skint4	UTSW	4	111,977,306 (GRCm39)	missense	possibly damaging	0.70
R4050:Skint4	UTSW	4	111,981,811 (GRCm39)	missense	probably benign	0.01
R4564:Skint4	UTSW	4	111,977,066 (GRCm39)	missense	probably damaging	0.99
R4581:Skint4	UTSW	4	111,944,239 (GRCm39)	missense	probably damaging	1.00
R4587:Skint4	UTSW	4	111,944,221 (GRCm39)	missense	probably damaging	0.99
R4674:Skint4	UTSW	4	111,975,430 (GRCm39)	missense	probably damaging	1.00
R4723:Skint4	UTSW	4	111,975,433 (GRCm39)	missense	possibly damaging	0.70
R4753:Skint4	UTSW	4	112,003,728 (GRCm39)	missense	probably benign	0.00
R4775:Skint4	UTSW	4	111,993,261 (GRCm39)	missense	probably damaging	0.97
R4832:Skint4	UTSW	4	112,000,963 (GRCm39)	missense	possibly damaging	0.49
R5299:Skint4	UTSW	4	111,993,203 (GRCm39)	missense	possibly damaging	0.59
R6433:Skint4	UTSW	4	112,003,707 (GRCm39)	missense	probably benign	0.00
R6616:Skint4	UTSW	4	111,975,427 (GRCm39)	missense	possibly damaging	0.70
R6698:Skint4	UTSW	4	111,977,096 (GRCm39)	missense	probably damaging	1.00
R6752:Skint4	UTSW	4	111,977,060 (GRCm39)	missense	possibly damaging	0.89
R7034:Skint4	UTSW	4	112,015,281 (GRCm39)	missense	possibly damaging	0.53
R7102:Skint4	UTSW	4	111,975,298 (GRCm39)	missense	probably damaging	1.00
R7602:Skint4	UTSW	4	111,975,468 (GRCm39)	missense	possibly damaging	0.50
R8027:Skint4	UTSW	4	112,015,182 (GRCm39)	critical splice acceptor site	probably null
R8038:Skint4	UTSW	4	111,977,003 (GRCm39)	intron	probably benign
R8147:Skint4	UTSW	4	111,993,218 (GRCm39)	missense	probably benign	0.06
R8375:Skint4	UTSW	4	111,975,173 (GRCm39)	missense	probably damaging	0.98
R8682:Skint4	UTSW	4	111,993,237 (GRCm39)	missense	possibly damaging	0.86
R8695:Skint4	UTSW	4	111,975,264 (GRCm39)	missense	probably damaging	1.00
R9068:Skint4	UTSW	4	112,022,932 (GRCm39)	missense	possibly damaging	0.93
R9361:Skint4	UTSW	4	112,001,021 (GRCm39)	missense	probably damaging	0.99
R9516:Skint4	UTSW	4	112,015,236 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CCAAAGATGAACTACCATTTCTTAGTC -3'
(R):5'- ATTCCTGTGAGAGCTGGCTTC -3'

Sequencing Primer
(F):5'- CAAGTGAAACAGGTTTTTCCTCTGC -3'
(R):5'- GCTGGCTTCAATAAAAAGAACCATTG -3'

Posted On

2017-08-16