Mutagenetix > Incidental Mutation

Incidental Mutation 'R0625:Skint2'

57406

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

038814-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112557194-112652248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112624086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 49 (S49T)

Ref Sequence

ENSEMBL: ENSMUSP00000139831 (fasta)

Gene Model

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

AlphaFold

A7XUX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058791
AA Change: S49T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: S49T

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

noncoding transcript
Transcript: ENSMUST00000106559

SMART Domains

Protein: ENSMUSP00000102169
Gene: ENSMUSG00000034359

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGv	41	122	2.52e-9	SMART
Pfam:C2-set_2	146	225	5.2e-8	PFAM
transmembrane domain	241	263	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106560
AA Change: S49T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: S49T

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: S49T

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

SMART Domains

Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: S49T

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,408,065	S2P	probably benign	Het
Abca16	A	C	7: 120,435,893	T301P	probably damaging	Het
Acer2	A	G	4: 86,887,162	D121G	possibly damaging	Het
Adgrd1	T	C	5: 129,171,931		probably null	Het
Arhgap11a	T	C	2: 113,841,711	I249V	probably benign	Het
Arhgap22	A	G	14: 33,366,714	E219G	probably benign	Het
C2cd4b	T	A	9: 67,759,751	S10T	probably benign	Het
Cnot6	A	T	11: 49,683,171	I224N	probably damaging	Het
Ctrc	T	C	4: 141,841,518	T125A	probably damaging	Het
Cxxc5	T	G	18: 35,858,589	S14R	unknown	Het
Cyp4f37	T	G	17: 32,634,678	F445L	probably damaging	Het
Dcbld1	T	G	10: 52,312,850	I186S	probably benign	Het
Dmxl2	T	C	9: 54,382,702	T2510A	probably benign	Het
Dnah3	A	G	7: 120,071,887	I591T	possibly damaging	Het
Dock5	A	T	14: 67,841,163	I204N	probably benign	Het
Dysf	G	A	6: 84,111,987		probably null	Het
Erich5	A	G	15: 34,471,369	E248G	probably damaging	Het
Fam160a1	A	G	3: 85,730,500	V164A	possibly damaging	Het
Foxm1	A	G	6: 128,373,871	S712G	probably damaging	Het
Frmpd1	A	G	4: 45,284,055	T959A	probably benign	Het
Gfra4	C	T	2: 131,040,256	V277I	probably null	Het
Hacd4	T	C	4: 88,435,010	I82V	probably benign	Het
Itih2	C	T	2: 10,123,414	V159I	possibly damaging	Het
Itpr2	T	A	6: 146,166,651	M2410L	probably benign	Het
March11	A	G	15: 26,311,043	I202V	probably damaging	Het
March3	A	G	18: 56,811,830		probably null	Het
Med12l	G	A	3: 59,247,437	E1135K	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mlx	T	C	11: 101,087,782	L78P	possibly damaging	Het
Muc5b	T	C	7: 141,846,427	C473R	unknown	Het
N4bp2l1	T	A	5: 150,576,745	R66*	probably null	Het
Nes	A	G	3: 87,977,172	T913A	possibly damaging	Het
Oas1a	T	C	5: 120,899,259	E235G	probably damaging	Het
Olfr1104	T	A	2: 87,021,620	H308L	probably benign	Het
Olfr477	T	C	7: 107,991,189	S275P	probably damaging	Het
Olfr905	T	C	9: 38,473,208	S154P	possibly damaging	Het
Parn	C	T	16: 13,640,294	V286I	probably benign	Het
Paxip1	G	A	5: 27,765,942	Q470*	probably null	Het
Phc2	C	G	4: 128,723,710	H510D	possibly damaging	Het
Pla2g4f	T	A	2: 120,305,041	D384V	probably damaging	Het
Plpbp	A	T	8: 27,045,131	N68I	probably damaging	Het
Podxl2	G	A	6: 88,849,955	A123V	possibly damaging	Het
Pole	A	T	5: 110,325,550	T1737S	possibly damaging	Het
Ppp3cc	T	C	14: 70,225,027	E396G	probably damaging	Het
Pramel7	T	A	2: 87,491,008	I228F	probably benign	Het
Prl7d1	A	T	13: 27,710,140	C149S	probably benign	Het
Qtrt1	G	T	9: 21,418,288	M217I	probably benign	Het
Sec24a	T	A	11: 51,729,454	D456V	probably damaging	Het
Shox2	T	G	3: 66,981,544		probably null	Het
Smarca5	A	G	8: 80,720,686		probably null	Het
Sorcs2	T	A	5: 36,024,572	D1068V	possibly damaging	Het
Tmem114	T	C	16: 8,412,102		probably null	Het
Ttc7b	T	A	12: 100,355,046	M24L	probably benign	Het
Ttll3	A	G	6: 113,408,903		probably null	Het
Usp7	C	T	16: 8,704,982	D102N	probably benign	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
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
R7335:Skint2	UTSW	4	112624218	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCTTGAAGTGTCTCAGCACCTGC -3'
(R):5'- GATCCATGCCTACCTGTGACCTTG -3'

Sequencing Primer
(F):5'- CAGCACCTGCAATTGTTCCT -3'
(R):5'- GTGGTATGACCCATCATCATCAG -3'

Posted On

2013-07-11