Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Skint4'

99916

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

9530098N22Rik

MMRRC Submission

039248-MU

Accession Numbers

Essential gene?

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

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111929213-112025273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111981793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 246 (M246T)

Ref Sequence

ENSEMBL: ENSMUSP00000102175 (fasta)

Gene Model

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

AlphaFold

A7TZF3

Predicted Effect

probably benign
Transcript: ENSMUST00000069769
AA Change: M246T

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: M246T

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 benign
Transcript: ENSMUST00000106564
AA Change: M246T

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: M246T

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 benign
Transcript: ENSMUST00000106565
AA Change: M246T

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: M246T

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 benign
Transcript: ENSMUST00000106566
AA Change: M254T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: M254T

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 16,935,446 (GRCm39)	H214L	probably benign	Het
Abca17	T	C	17: 24,508,325 (GRCm39)	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anapc1	C	A	2: 128,522,108 (GRCm39)	C150F	probably damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Arhgef18	T	A	8: 3,439,023 (GRCm39)		probably benign	Het
Borcs5	T	A	6: 134,687,096 (GRCm39)	N150K	probably damaging	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,671,241 (GRCm39)	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,784,402 (GRCm39)	T137P	unknown	Het
Defb8	C	T	8: 19,495,910 (GRCm39)	G50E	probably damaging	Het
Dimt1	T	A	13: 107,086,193 (GRCm39)		probably benign	Het
Dnajb11	T	A	16: 22,689,423 (GRCm39)	D281E	probably damaging	Het
Eci2	G	T	13: 35,177,087 (GRCm39)	N24K	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxl13	A	T	5: 21,825,602 (GRCm39)		probably benign	Het
Fbxw11	T	C	11: 32,661,922 (GRCm39)	C121R	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gab1	C	A	8: 81,511,471 (GRCm39)	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,602,982 (GRCm39)		noncoding transcript	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Itpkc	T	C	7: 26,927,195 (GRCm39)	I240V	probably benign	Het
Jakmip3	A	G	7: 138,629,515 (GRCm39)	D552G	probably damaging	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,577,011 (GRCm39)	E768G	possibly damaging	Het
Klf6	A	G	13: 5,911,711 (GRCm39)	D25G	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Mast1	T	C	8: 85,651,956 (GRCm39)	E342G	probably benign	Het
Mgat5b	T	C	11: 116,868,622 (GRCm39)	L515P	probably damaging	Het
Mink1	A	G	11: 70,502,166 (GRCm39)	D985G	probably benign	Het
Mphosph9	A	G	5: 124,453,739 (GRCm39)	V191A	possibly damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,875,598 (GRCm39)	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,918,292 (GRCm39)	R270S	possibly damaging	Het
Rasal2	A	G	1: 156,975,218 (GRCm39)	M1172T	probably damaging	Het
Rif1	A	G	2: 51,997,640 (GRCm39)		probably benign	Het
Rnf123	C	T	9: 107,954,572 (GRCm39)	R48H	probably benign	Het
Rsrc1	T	C	3: 67,263,551 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,384,608 (GRCm39)	P195L	probably benign	Het
Sis	A	G	3: 72,865,437 (GRCm39)		probably benign	Het
Snrnp200	C	A	2: 127,070,997 (GRCm39)	R1093S	probably damaging	Het
Sp100	A	G	1: 85,629,141 (GRCm39)	N471D	possibly damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Ssxb8	T	G	X: 8,556,062 (GRCm39)	H88P	probably damaging	Het
Sufu	T	C	19: 46,389,703 (GRCm39)		probably null	Het
Synpo2l	G	A	14: 20,718,235 (GRCm39)	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,881,683 (GRCm39)	S40R	probably damaging	Het
Tent4b	T	A	8: 88,978,635 (GRCm39)	F445L	probably damaging	Het
Terb1	G	A	8: 105,210,938 (GRCm39)	T363I	probably benign	Het
Timd4	C	T	11: 46,708,498 (GRCm39)	P175S	probably damaging	Het
Tlr3	C	A	8: 45,850,171 (GRCm39)	V833L	probably damaging	Het
Tpst2	T	A	5: 112,455,911 (GRCm39)	M150K	probably damaging	Het
Trim67	T	A	8: 125,543,774 (GRCm39)	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Uimc1	G	A	13: 55,176,415 (GRCm39)	T701I	possibly damaging	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,547,621 (GRCm39)	S160P	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Zfp457	G	A	13: 67,441,748 (GRCm39)	P180S	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
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
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

Posted On

2014-01-15