Mutagenetix > Incidental Mutation

Incidental Mutation 'R7335:Skint2'

569420

Institutional Source

Beutler Lab

Gene Symbol

Skint2

Ensembl Gene

ENSMUSG00000034359

Gene Name

selection and upkeep of intraepithelial T cells 2

Synonyms

B7S3, OTTMUSG00000008540

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112557194-112652248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112624218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 93 (L93F)

Ref Sequence

ENSEMBL: ENSMUSP00000139831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058791] [ENSMUST00000106560] [ENSMUST00000186969]

AlphaFold

A7XUX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058791
AA Change: L93F

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: L93F

Domain	Start	End	E-Value	Type
IGv	41	122	2.52e-9	SMART
Pfam:C2-set_2	140	225	2.7e-10	PFAM
Pfam:Ig_2	153	231	3.6e-3	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106560
AA Change: L93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: L93F

Domain	Start	End	E-Value	Type
IGv	41	122	2.52e-9	SMART
Pfam:C2-set_2	145	225	1.3e-10	PFAM
Pfam:Ig_2	153	231	2e-3	PFAM
transmembrane domain	241	263	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186969
AA Change: L93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: L93F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGv	41	122	2.52e-9	SMART
Pfam:C2-set_2	145	225	2e-10	PFAM
Pfam:Ig_2	154	231	1.7e-3	PFAM
transmembrane domain	241	263	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
transmembrane domain	322	344	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,602,266	S35G	probably benign	Het
Adcy6	G	T	15: 98,603,876	Q286K	probably benign	Het
Agrn	A	G	4: 156,176,532	S676P	probably damaging	Het
Arntl2	A	G	6: 146,809,719	M74V	probably benign	Het
Arpp21	A	T	9: 112,176,251		probably null	Het
C1rb	A	T	6: 124,575,279	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,422,603	V629A		Het
Cacna1i	T	G	15: 80,375,575	F1287C	probably damaging	Het
Catspere2	A	G	1: 178,098,508	I247V	probably benign	Het
Cd101	C	G	3: 101,018,729	A229P	probably benign	Het
Cdh23	T	C	10: 60,305,116	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,034,353	K557N	possibly damaging	Het
Col6a4	G	A	9: 106,076,892	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,640,007	C164*	probably null	Het
Dopey2	A	G	16: 93,747,508	E179G	probably benign	Het
Duoxa2	A	T	2: 122,301,340	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,736,970	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,983,118	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,515,233	I121T	probably benign	Het
Herc3	T	A	6: 58,876,788	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,392,157	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,652,864	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,520,337	T234A	probably benign	Het
Hyal1	G	T	9: 107,579,160	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,708,951		probably benign	Het
Iqcc	T	A	4: 129,616,708	Q338L	not run	Het
Kdm5b	T	C	1: 134,560,439	V34A	probably damaging	Het
Lgals4	T	C	7: 28,841,146	F225L	probably benign	Het
Lmtk3	C	T	7: 45,795,157	T1088I	unknown	Het
Magel2	A	T	7: 62,380,776	S1143C	unknown	Het
Mapk4	A	T	18: 73,937,267	L185Q	possibly damaging	Het
Ncam1	A	G	9: 49,506,911	S1030P		Het
Nynrin	A	T	14: 55,863,914	T347S	probably benign	Het
Pak7	T	C	2: 136,098,299	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,474,336	E207G	probably damaging	Het
Pde6h	T	C	6: 136,963,213	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,458,814		probably null	Het
Prkd3	A	G	17: 78,954,566	F774S	probably damaging	Het
Prox1	T	A	1: 190,161,845	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,886,019	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,440,782	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,031,998	S1678G	probably benign	Het
Sez6l	G	T	5: 112,576,812		probably null	Het
Sgcg	T	A	14: 61,240,367	Y91F	probably damaging	Het
Slc22a22	A	T	15: 57,263,375	D99E	probably benign	Het
Slco3a1	A	G	7: 74,284,342	I694T	probably damaging	Het
Smurf2	A	T	11: 106,846,085	I305N	possibly damaging	Het
Soga1	T	C	2: 157,031,005	Q862R	possibly damaging	Het
Stac3	T	A	10: 127,504,900	V178D	probably benign	Het
Suclg2	T	A	6: 95,566,460	N330I	probably damaging	Het
Suclg2	G	A	6: 95,566,463	A329V	probably damaging	Het
Tas2r118	C	T	6: 23,969,750	C104Y	probably damaging	Het
Tom1l2	T	G	11: 60,245,165	E327D	probably benign	Het
Trit1	T	C	4: 123,016,779	M57T	possibly damaging	Het
Vav1	G	A	17: 57,296,720	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,378,888	L235P	probably damaging	Het
Zfp735	T	A	11: 73,711,553	V441E	possibly damaging	Het

Other mutations in Skint2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Skint2	APN	4	112624212	missense	probably damaging	1.00
IGL00801:Skint2	APN	4	112625991	missense	possibly damaging	0.88
IGL01602:Skint2	APN	4	112625994	missense	probably benign	0.44
IGL01605:Skint2	APN	4	112625994	missense	probably benign	0.44
IGL02015:Skint2	APN	4	112624128	nonsense	probably null
IGL02694:Skint2	APN	4	112616595	splice site	probably benign
IGL03247:Skint2	APN	4	112626026	missense	probably benign	0.06
PIT4677001:Skint2	UTSW	4	112625938	missense	probably benign	0.10
R0054:Skint2	UTSW	4	112645463	missense	probably benign	0.15
R0054:Skint2	UTSW	4	112645463	missense	probably benign	0.15
R0190:Skint2	UTSW	4	112616532	missense	possibly damaging	0.85
R0479:Skint2	UTSW	4	112624041	missense	possibly damaging	0.47
R0625:Skint2	UTSW	4	112624086	missense	probably damaging	1.00
R1143:Skint2	UTSW	4	112625936	missense	probably benign	0.00
R1564:Skint2	UTSW	4	112625998	missense	probably damaging	1.00
R1861:Skint2	UTSW	4	112647118	intron	probably benign
R1864:Skint2	UTSW	4	112625909	missense	probably benign	0.10
R3079:Skint2	UTSW	4	112639673	missense	probably benign	0.01
R3891:Skint2	UTSW	4	112624186	missense	probably damaging	1.00
R4422:Skint2	UTSW	4	112584588	intron	probably benign
R4799:Skint2	UTSW	4	112652108	missense	probably benign	0.07
R5458:Skint2	UTSW	4	112624180	missense	possibly damaging	0.83
R5482:Skint2	UTSW	4	112625879	missense	probably damaging	1.00
R5603:Skint2	UTSW	4	112649764	missense	possibly damaging	0.91
R7068:Skint2	UTSW	4	112624351	missense	probably damaging	1.00
R7233:Skint2	UTSW	4	112625925	missense	probably damaging	0.99
R7516:Skint2	UTSW	4	112625971	missense	probably damaging	1.00
R7790:Skint2	UTSW	4	112616554	missense	possibly damaging	0.71
R7878:Skint2	UTSW	4	112649745	missense	possibly damaging	0.85
R7941:Skint2	UTSW	4	112625990	missense	probably damaging	1.00
R7965:Skint2	UTSW	4	112645451	missense	probably benign	0.17
R7976:Skint2	UTSW	4	112624132	missense	probably damaging	1.00
R8100:Skint2	UTSW	4	112626000	missense	probably damaging	0.99
R9014:Skint2	UTSW	4	112625829	missense	probably benign	0.00
R9114:Skint2	UTSW	4	112639637	missense	probably benign	0.00
R9228:Skint2	UTSW	4	112625842	missense	possibly damaging	0.88
R9245:Skint2	UTSW	4	112645419	missense	probably benign
R9336:Skint2	UTSW	4	112625857	missense	probably benign	0.02
R9370:Skint2	UTSW	4	112624062	missense	possibly damaging	0.87
R9606:Skint2	UTSW	4	112625950	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTTACAGAGGCCAGTCTTG -3'
(R):5'- CTAAGACTTGTCCAATCAGTCAAC -3'

Sequencing Primer
(F):5'- CAGTCTTGGCACCATTGGG -3'
(R):5'- CAGTCAACCCTAGATAGGCTTTGG -3'

Posted On

2019-09-13