Mutagenetix > Incidental Mutation

Incidental Mutation 'R3804:Skint4'

274486

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

9530098N22Rik

MMRRC Submission

040879-MU

Accession Numbers

Essential gene?

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

Stock #

R3804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111929213-112025273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111975378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 113 (V113L)

Ref Sequence

ENSEMBL: ENSMUSP00000102176 (fasta)

Gene Model

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

AlphaFold

A7TZF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000069769
AA Change: V105L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: V105L

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: V105L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: V105L

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: V105L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: V105L

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: V113L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: V113L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Adgra1	A	G	7: 139,425,510 (GRCm39)	T8A	probably benign	Het
Alms1	A	G	6: 85,596,629 (GRCm39)	Y954C	probably damaging	Het
AU021092	A	C	16: 5,034,626 (GRCm39)	F199V	possibly damaging	Het
Bahcc1	C	T	11: 120,174,184 (GRCm39)	P1648L	probably benign	Het
Cacna1s	T	A	1: 136,034,756 (GRCm39)	C1319S	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cntn5	A	G	9: 9,781,668 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,002 (GRCm39)	K159E	probably damaging	Het
Dgkz	C	A	2: 91,769,975 (GRCm39)	R563L	probably benign	Het
Dnah8	A	G	17: 30,889,621 (GRCm39)	E718G	probably benign	Het
Dop1a	T	C	9: 86,403,048 (GRCm39)	L1416P	probably damaging	Het
Dstyk	G	A	1: 132,377,464 (GRCm39)	A110T	probably damaging	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Gmppb	T	C	9: 107,927,773 (GRCm39)	Y176H	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Gtf3c3	A	G	1: 54,463,166 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,242,897 (GRCm39)		probably null	Het
Icam2	A	G	11: 106,271,648 (GRCm39)	L94P	probably damaging	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Meltf	A	G	16: 31,703,816 (GRCm39)	H181R	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Or1e16	T	C	11: 73,286,776 (GRCm39)	Q24R	probably benign	Het
Or5p4	A	T	7: 107,680,378 (GRCm39)	I126F	probably damaging	Het
Or6c212	T	A	10: 129,558,918 (GRCm39)	D165V	possibly damaging	Het
Or6n2	T	A	1: 173,897,474 (GRCm39)	N203K	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pgm2l1	T	C	7: 99,901,474 (GRCm39)	V121A	probably benign	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Pif1	T	A	9: 65,495,588 (GRCm39)	V166E	probably damaging	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,646,272 (GRCm39)	C374R	probably damaging	Het
Septin3	T	C	15: 82,170,630 (GRCm39)		probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc22a15	C	T	3: 101,804,590 (GRCm39)	G145D	probably damaging	Het
Slc28a1	A	T	7: 80,775,969 (GRCm39)	I222F	probably damaging	Het
Slc43a2	T	C	11: 75,454,424 (GRCm39)	L323P	probably benign	Het
Sorbs3	A	G	14: 70,436,800 (GRCm39)		probably benign	Het
Spink10	C	T	18: 62,786,485 (GRCm39)		probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Sun1	C	A	5: 139,211,117 (GRCm39)	C164*	probably null	Het
Tax1bp1	T	C	6: 52,719,770 (GRCm39)	F453L	probably benign	Het
Tmem54	A	G	4: 129,002,013 (GRCm39)	N9S	probably benign	Het
Tmx4	A	G	2: 134,462,497 (GRCm39)	W145R	probably damaging	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn1r40	A	G	6: 89,691,991 (GRCm39)	I269M	probably benign	Het
Wdr7	G	T	18: 63,853,907 (GRCm39)	R80L	probably benign	Het
Zap70	A	T	1: 36,810,223 (GRCm39)	Q111L	possibly damaging	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
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
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'- GAACTCAATTGTCAATTGTCCCCAC -3'
(R):5'- TGTTCTGCCTGCTAGTAAAATGAG -3'

Sequencing Primer
(F):5'- TTGTCAATTGTCCCCACCACAAC -3'
(R):5'- GCCTGCTAGTAAAATGAGAGTTAAAC -3'

Posted On

2015-04-02