Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Skint4'

272969

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112072016-112168076 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112118181 bp (GRCm38)

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: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	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
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
R6752:Skint4	UTSW	4	112119863	missense	possibly damaging	0.89
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

Predicted Primers

PCR Primer
(F):5'- AGAACTCAATTGTCAATTGTCCCCAC -3'
(R):5'- GTTCTGCCTGCTAGTAAAATGAGAG -3'

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

Posted On

2015-03-25