Mutagenetix > Incidental Mutation

Incidental Mutation 'R6752:Skint4'

530824

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112072016-112168076 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112119863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 158 (M158T)

Ref Sequence

ENSEMBL: ENSMUSP00000102176 (fasta)

Gene Model

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

AlphaFold

A7TZF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069769
AA Change: M150T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: M150T

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

possibly damaging
Transcript: ENSMUST00000106564
AA Change: M150T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: M150T

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

possibly damaging
Transcript: ENSMUST00000106565
AA Change: M150T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: M150T

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

possibly damaging
Transcript: ENSMUST00000106566
AA Change: M158T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: M158T

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,195,483	L45S	probably benign	Het
Agbl2	G	A	2: 90,803,074	C518Y	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Aox1	T	C	1: 58,047,239	I101T	probably benign	Het
Arhgap23	T	C	11: 97,452,248	F241S	probably damaging	Het
Asmt	A	G	X: 170,676,361	M202V	probably benign	Het
Atp6v0a2	A	G	5: 124,641,514	E189G	probably damaging	Het
Birc3	G	A	9: 7,857,344	A376V	probably benign	Het
Ccbe1	C	T	18: 66,076,307		probably null	Het
Chst2	C	A	9: 95,404,749	E515*	probably null	Het
Col12a1	A	T	9: 79,633,424	N2426K	possibly damaging	Het
Dmrt2	A	G	19: 25,678,342	N435S	probably damaging	Het
Dnah14	A	G	1: 181,593,452	K123E	probably benign	Het
Dock4	T	A	12: 40,820,617	L1452Q	probably damaging	Het
Galnt7	G	A	8: 57,652,951	R10C	probably damaging	Het
Gm16506	A	G	14: 43,727,419	I22T	unknown	Het
H2-Q6	A	G	17: 35,428,127	T292A	probably damaging	Het
Ifne	A	G	4: 88,880,082	M33T	probably benign	Het
Igf2r	G	A	17: 12,714,944	R808W	probably damaging	Het
Igfbp5	T	C	1: 72,863,909	E169G	probably damaging	Het
Inppl1	G	A	7: 101,832,542	R198*	probably null	Het
Irgm1	T	C	11: 48,866,463	T174A	probably damaging	Het
Itih3	C	T	14: 30,923,489	G21S	possibly damaging	Het
Klra4	G	T	6: 130,062,028	Q134K	probably benign	Het
Mfsd1	T	A	3: 67,596,603	Y309*	probably null	Het
Mrps10	A	G	17: 47,377,815	N162S	probably damaging	Het
Mtmr14	T	C	6: 113,240,397	F90S	probably damaging	Het
Myh15	A	G	16: 49,182,927	D1783G	probably damaging	Het
Myo3b	A	G	2: 70,289,512	E972G	probably damaging	Het
Myt1	G	T	2: 181,801,082	V455F	probably damaging	Het
Nbea	T	A	3: 55,968,309	T1647S	probably benign	Het
Nbea	A	T	3: 56,037,219	S575T	probably benign	Het
Ntn4	A	G	10: 93,734,175	N466S	probably benign	Het
Olfr1113	A	G	2: 87,213,044	M51V	probably benign	Het
Olfr1468-ps1	T	A	19: 13,375,526	L188H	unknown	Het
Olfr197	T	A	16: 59,186,331	N51Y	probably damaging	Het
Pcdhgb4	T	A	18: 37,720,651	I33N	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pom121l2	T	G	13: 21,981,769	F70C	probably damaging	Het
Psmb5	T	C	14: 54,616,755	T89A	probably benign	Het
Rab11fip2	T	C	19: 59,907,043	D471G	probably damaging	Het
Rnh1	A	G	7: 141,163,441	V207A	probably benign	Het
Sh3tc2	C	A	18: 61,961,037	T49N	probably benign	Het
Skint7	T	A	4: 111,980,266	H80Q	probably benign	Het
Smg1	A	G	7: 118,163,316		probably benign	Het
Sostdc1	T	C	12: 36,314,412	V40A	probably benign	Het
Sptlc1	C	A	13: 53,335,358	K437N	possibly damaging	Het
Stat2	T	C	10: 128,283,753	F503L	probably damaging	Het
Syt16	A	T	12: 74,229,213		probably null	Het
Tspyl1	T	C	10: 34,282,587	S103P	probably benign	Het
Ube4a	A	T	9: 44,925,948	S1053R	probably damaging	Het
Vipr1	A	G	9: 121,653,893	N58S	probably damaging	Het
Zfp184	C	A	13: 21,959,408	A428E	probably damaging	Het
Zfp292	A	C	4: 34,808,593	F1484V	possibly damaging	Het
Zfp599	G	A	9: 22,249,544	H442Y	probably damaging	Het
Zfp944	G	A	17: 22,339,519	T249I	probably benign	Het
Zkscan14	T	A	5: 145,195,506	H405L	probably damaging	Het

Other mutations in Skint4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Skint4	APN	4	112120010	missense	possibly damaging	0.86
IGL01654:Skint4	APN	4	112120057	missense	probably damaging	0.99
IGL02040:Skint4	APN	4	112146482	splice site	probably benign
IGL02328:Skint4	APN	4	112120058	missense	possibly damaging	0.92
IGL02811:Skint4	APN	4	112087003	missense	possibly damaging	0.86
IGL02965:Skint4	APN	4	112136021	missense	probably benign	0.01
IGL03039:Skint4	APN	4	112124650	missense	probably benign	0.20
IGL03060:Skint4	APN	4	112118235	missense	probably benign	0.33
IGL03075:Skint4	APN	4	112087042	missense	probably damaging	1.00
IGL03352:Skint4	APN	4	112165686	missense	possibly damaging	0.96
PIT4378001:Skint4	UTSW	4	112087035	missense	probably benign	0.01
R0483:Skint4	UTSW	4	112117939	splice site	probably benign
R1175:Skint4	UTSW	4	112124596	missense	probably benign	0.14
R1446:Skint4	UTSW	4	112118114	missense	probably benign	0.11
R1641:Skint4	UTSW	4	112136043	missense	possibly damaging	0.93
R1983:Skint4	UTSW	4	112146492	missense	probably benign	0.00
R2168:Skint4	UTSW	4	112086986	critical splice acceptor site	probably null
R2272:Skint4	UTSW	4	112119868	missense	probably benign	0.01
R2287:Skint4	UTSW	4	112118205	missense	possibly damaging	0.70
R3801:Skint4	UTSW	4	112118181	missense	probably damaging	0.98
R3802:Skint4	UTSW	4	112118181	missense	probably damaging	0.98
R3804:Skint4	UTSW	4	112118181	missense	probably damaging	0.98
R4009:Skint4	UTSW	4	112120109	missense	possibly damaging	0.70
R4050:Skint4	UTSW	4	112124614	missense	probably benign	0.01
R4564:Skint4	UTSW	4	112119869	missense	probably damaging	0.99
R4581:Skint4	UTSW	4	112087042	missense	probably damaging	1.00
R4587:Skint4	UTSW	4	112087024	missense	probably damaging	0.99
R4674:Skint4	UTSW	4	112118233	missense	probably damaging	1.00
R4723:Skint4	UTSW	4	112118236	missense	possibly damaging	0.70
R4753:Skint4	UTSW	4	112146531	missense	probably benign	0.00
R4775:Skint4	UTSW	4	112136064	missense	probably damaging	0.97
R4832:Skint4	UTSW	4	112143766	missense	possibly damaging	0.49
R5299:Skint4	UTSW	4	112136006	missense	possibly damaging	0.59
R6118:Skint4	UTSW	4	112119822	splice site	probably null
R6433:Skint4	UTSW	4	112146510	missense	probably benign	0.00
R6616:Skint4	UTSW	4	112118230	missense	possibly damaging	0.70
R6698:Skint4	UTSW	4	112119899	missense	probably damaging	1.00
R7034:Skint4	UTSW	4	112158084	missense	possibly damaging	0.53
R7102:Skint4	UTSW	4	112118101	missense	probably damaging	1.00
R7602:Skint4	UTSW	4	112118271	missense	possibly damaging	0.50
R8027:Skint4	UTSW	4	112157985	critical splice acceptor site	probably null
R8038:Skint4	UTSW	4	112119806	intron	probably benign
R8147:Skint4	UTSW	4	112136021	missense	probably benign	0.06
R8375:Skint4	UTSW	4	112117976	missense	probably damaging	0.98
R8682:Skint4	UTSW	4	112136040	missense	possibly damaging	0.86
R8695:Skint4	UTSW	4	112118067	missense	probably damaging	1.00
R9068:Skint4	UTSW	4	112165735	missense	possibly damaging	0.93
R9361:Skint4	UTSW	4	112143824	missense	probably damaging	0.99
R9516:Skint4	UTSW	4	112158039	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CACGAACTTCTTAGGCAATGTG -3'
(R):5'- GGTGAGTTACAAGGTTTTGAAAGTAGC -3'

Sequencing Primer
(F):5'- CAATGTGCATCCTATGTGTTTTGAC -3'
(R):5'- CAAATGACATTCCTGTGAGAGCTG -3'

Posted On

2018-08-01