Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Skint4'

343656

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

9530098N22Rik

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

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

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111929213-112025273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111944239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 17 (L17P)

Ref Sequence

ENSEMBL: ENSMUSP00000102175 (fasta)

Gene Model

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

AlphaFold

A7TZF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000069769
AA Change: L17P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: L17P

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 damaging
Transcript: ENSMUST00000106564
AA Change: L17P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: L17P

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 damaging
Transcript: ENSMUST00000106565
AA Change: L17P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: L17P

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 damaging
Transcript: ENSMUST00000106566
AA Change: L25P

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

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: L25P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,828 (GRCm39)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,754,146 (GRCm39)	D20G	possibly damaging	Het
Abca7	A	G	10: 79,842,402 (GRCm39)	D1112G	probably benign	Het
Actc1	G	T	2: 113,880,089 (GRCm39)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,279,595 (GRCm39)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,430,979 (GRCm39)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,771,205 (GRCm39)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,587,121 (GRCm39)	I991T	probably damaging	Het
Cacna1s	T	A	1: 135,998,708 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,359,515 (GRCm39)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,869 (GRCm39)	I110N	probably damaging	Het
Cenpe	A	G	3: 134,952,761 (GRCm39)	K1484E	probably benign	Het
Cep68	A	G	11: 20,189,333 (GRCm39)	S560P	probably benign	Het
Cog3	G	T	14: 75,970,391 (GRCm39)	T352K	probably benign	Het
Cox6a2	A	G	7: 127,805,152 (GRCm39)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,201,282 (GRCm39)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,262,881 (GRCm39)	V689A	probably benign	Het
Ddx60	A	T	8: 62,476,295 (GRCm39)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 148,918,482 (GRCm39)		silent	Het
Dlgap2	T	C	8: 14,896,679 (GRCm39)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,170,440 (GRCm39)	D502E	probably damaging	Het
Efhb	C	A	17: 53,733,303 (GRCm39)	A523S	probably damaging	Het
Epha8	C	T	4: 136,660,775 (GRCm39)	V648M	probably damaging	Het
Fanca	C	T	8: 124,001,077 (GRCm39)		probably null	Het
Fbxw7	G	A	3: 84,874,852 (GRCm39)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,512,075 (GRCm39)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,273,880 (GRCm39)	E112G	probably damaging	Het
Gm7535	T	C	17: 18,131,345 (GRCm39)		probably benign	Het
Irf2bp2	T	A	8: 127,317,994 (GRCm39)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,622,925 (GRCm39)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,275,576 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,198,912 (GRCm39)		probably null	Het
Mafa	G	T	15: 75,619,585 (GRCm39)	P63T	unknown	Het
Mars2	T	A	1: 55,277,021 (GRCm39)	L208H	probably damaging	Het
Myom2	A	G	8: 15,156,459 (GRCm39)	I769V	probably benign	Het
Nyap1	A	G	5: 137,734,284 (GRCm39)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,424,572 (GRCm39)	M200K	probably benign	Het
Osmr	C	T	15: 6,872,375 (GRCm39)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,809,934 (GRCm39)	T796A	probably benign	Het
Pclo	T	C	5: 14,725,519 (GRCm39)	V1459A	unknown	Het
Phactr3	A	C	2: 177,924,965 (GRCm39)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,587,383 (GRCm39)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,407,810 (GRCm39)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,160,986 (GRCm39)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 3,993,375 (GRCm39)		probably null	Het
Six1	T	G	12: 73,092,708 (GRCm39)	T165P	probably benign	Het
Slc25a23	T	A	17: 57,359,740 (GRCm39)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,312,284 (GRCm39)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm39)		probably null	Het
Spryd3	A	G	15: 102,038,799 (GRCm39)	S141P	probably damaging	Het
Src	A	T	2: 157,304,958 (GRCm39)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stc2	A	G	11: 31,315,326 (GRCm39)		probably null	Het
Taf6l	T	C	19: 8,755,572 (GRCm39)	D261G	probably damaging	Het
Tal1	T	G	4: 114,921,919 (GRCm39)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,124 (GRCm39)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,396,655 (GRCm39)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm39)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,946,380 (GRCm39)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,556,639 (GRCm39)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Urb1	T	C	16: 90,585,034 (GRCm39)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,949,570 (GRCm39)	T426S	probably benign	Het
Yipf4	T	C	17: 74,806,089 (GRCm39)	Y243H	probably benign	Het
Zfp574	T	A	7: 24,780,738 (GRCm39)	C587S	probably damaging	Het
Zfp93	C	A	7: 23,975,093 (GRCm39)	H359Q	probably damaging	Het
Znfx1	T	C	2: 166,892,236 (GRCm39)	E660G	probably 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
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
R6118:Skint4	UTSW	4	111,977,019 (GRCm39)	splice site	probably null
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'- GTTTGAAATTGAGGCCTAATGGTAG -3'
(R):5'- TTCTTCCTGGAAGCTGACACAAAC -3'

Sequencing Primer
(F):5'- GTGGTTTCACTAGTCATTGAC -3'
(R):5'- GTATCTAAGCTGGATACTCTTGTGAC -3'

Posted On

2015-09-24