Mutagenetix > Incidental Mutation

Incidental Mutation 'R0190:Skint2'

43507

Institutional Source

Beutler Lab

Gene Symbol

Skint2

Ensembl Gene

ENSMUSG00000034359

Gene Name

selection and upkeep of intraepithelial T cells 2

Synonyms

OTTMUSG00000008540, B7S3

MMRRC Submission

038451-MU

Accession Numbers

Essential gene?

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

Stock #

R0190 (G1)

Quality Score

105

Status

Validated (trace)

Chromosome

Chromosomal Location

112470795-112509445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112473729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 4 (T4S)

Ref Sequence

ENSEMBL: ENSMUSP00000139831 (fasta)

Gene Model

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

AlphaFold

A7XUX6

Predicted Effect

probably benign
Transcript: ENSMUST00000058791
AA Change: T4S

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: T4S

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

possibly damaging
Transcript: ENSMUST00000106560
AA Change: T4S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: T4S

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

possibly damaging
Transcript: ENSMUST00000186969
AA Change: T4S

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: T4S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 91.6%
20x: 72.5%

Validation Efficiency

75% (45/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,429 (GRCm39)		probably null	Het
Aff2	CA	CAAA	X: 68,892,711 (GRCm39)		probably null	Het
Ankrd34a	A	G	3: 96,505,105 (GRCm39)	D103G	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
Atxn10	A	G	15: 85,220,730 (GRCm39)	D22G	possibly damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Caskin1	C	T	17: 24,723,596 (GRCm39)	L795F	possibly damaging	Het
Cdk12	T	C	11: 98,132,657 (GRCm39)		probably null	Het
Crtc2	A	G	3: 90,166,716 (GRCm39)	H91R	probably damaging	Het
Dbt	A	G	3: 116,332,736 (GRCm39)		probably null	Het
Dda1	C	A	8: 71,924,877 (GRCm39)	Y41*	probably null	Het
Dnah2	T	A	11: 69,326,075 (GRCm39)	D3692V	probably damaging	Het
Dpep1	A	G	8: 123,927,447 (GRCm39)	T334A	probably benign	Het
Enthd1	C	T	15: 80,418,695 (GRCm39)		probably null	Het
Fpr-rs6	T	A	17: 20,402,741 (GRCm39)	I207F	probably benign	Het
Fsip2	T	A	2: 82,815,521 (GRCm39)	S3751R	possibly damaging	Het
Gigyf2	A	T	1: 87,356,410 (GRCm39)		probably benign	Het
Gtf3c4	C	A	2: 28,730,140 (GRCm39)	D34Y	probably benign	Het
Iftap	G	A	2: 101,416,775 (GRCm39)	S58L	probably benign	Het
Igfn1	A	T	1: 135,889,790 (GRCm39)	V2419E	probably damaging	Het
Kank1	A	T	19: 25,386,647 (GRCm39)	I79L	probably benign	Het
Kif21b	A	G	1: 136,098,957 (GRCm39)	H1415R	probably benign	Het
Mad2l1	T	C	6: 66,516,862 (GRCm39)	S185P	possibly damaging	Het
Mettl18	A	G	1: 163,823,991 (GRCm39)	E104G	probably damaging	Het
Mrgprb2	G	A	7: 48,202,525 (GRCm39)	H67Y	possibly damaging	Het
Mrgprd	G	A	7: 144,875,439 (GRCm39)	M103I	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Nucks1	A	G	1: 131,852,329 (GRCm39)	D60G	probably damaging	Het
Or10g7	A	G	9: 39,905,840 (GRCm39)	I245V	probably benign	Het
Or13f5	G	C	4: 52,825,613 (GRCm39)	W72S	probably damaging	Het
Or4a72	T	A	2: 89,405,302 (GRCm39)	Y256F	probably damaging	Het
Paqr8	A	G	1: 21,005,271 (GRCm39)	T142A	probably benign	Het
Pdss1	T	C	2: 22,796,843 (GRCm39)	S119P	probably damaging	Het
Plcl2	A	G	17: 50,914,671 (GRCm39)	D560G	probably benign	Het
Ppm1b	T	A	17: 85,301,531 (GRCm39)	V137E	probably damaging	Het
Ppp1r16b	A	C	2: 158,537,983 (GRCm39)	K35Q	probably damaging	Het
Prkd2	A	T	7: 16,603,815 (GRCm39)	E832V	probably damaging	Het
Rab34	G	T	11: 78,082,232 (GRCm39)	K191N	possibly damaging	Het
Rad51ap2	A	C	12: 11,508,540 (GRCm39)	T821P	probably benign	Het
Rbm19	A	G	5: 120,282,111 (GRCm39)	T823A	probably benign	Het
Rpf2	T	G	10: 40,103,597 (GRCm39)	H106P	probably damaging	Het
Schip1	A	G	3: 68,533,177 (GRCm39)	M453V	probably benign	Het
Sema5a	T	A	15: 32,562,920 (GRCm39)	N310K	possibly damaging	Het
Sf3b1	T	C	1: 55,029,465 (GRCm39)	D1179G	probably damaging	Het
Slc22a5	A	T	11: 53,760,241 (GRCm39)	Y358*	probably null	Het
Slc34a1	T	C	13: 55,556,914 (GRCm39)	M251T	probably benign	Het
Slc44a5	A	G	3: 153,944,755 (GRCm39)	D124G	probably null	Het
Slc9b1	G	A	3: 135,063,434 (GRCm39)	E73K	unknown	Het
Ssbp2	T	C	13: 91,817,829 (GRCm39)	L156P	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Trim47	A	G	11: 115,997,053 (GRCm39)	V568A	probably damaging	Het
Ttn	A	T	2: 76,718,324 (GRCm39)		probably benign	Het
Ttpa	A	T	4: 20,021,260 (GRCm39)	I74F	probably damaging	Het
Vmn2r52	T	C	7: 9,905,315 (GRCm39)	I175V	probably benign	Het
Wrn	C	T	8: 33,731,011 (GRCm39)	C1350Y	probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp422	A	T	6: 116,603,572 (GRCm39)	D142E	probably damaging	Het
Zfp473	A	T	7: 44,382,612 (GRCm39)	C574S	probably damaging	Het
Zfp638	T	A	6: 83,905,946 (GRCm39)	M37K	probably damaging	Het
Zfp976	C	A	7: 42,291,948 (GRCm39)		probably benign	Het

Other mutations in Skint2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Skint2	APN	4	112,481,409 (GRCm39)	missense	probably damaging	1.00
IGL00801:Skint2	APN	4	112,483,188 (GRCm39)	missense	possibly damaging	0.88
IGL01602:Skint2	APN	4	112,483,191 (GRCm39)	missense	probably benign	0.44
IGL01605:Skint2	APN	4	112,483,191 (GRCm39)	missense	probably benign	0.44
IGL02015:Skint2	APN	4	112,481,325 (GRCm39)	nonsense	probably null
IGL02694:Skint2	APN	4	112,473,792 (GRCm39)	splice site	probably benign
IGL03247:Skint2	APN	4	112,483,223 (GRCm39)	missense	probably benign	0.06
PIT4677001:Skint2	UTSW	4	112,483,135 (GRCm39)	missense	probably benign	0.10
R0054:Skint2	UTSW	4	112,502,660 (GRCm39)	missense	probably benign	0.15
R0054:Skint2	UTSW	4	112,502,660 (GRCm39)	missense	probably benign	0.15
R0479:Skint2	UTSW	4	112,481,238 (GRCm39)	missense	possibly damaging	0.47
R0625:Skint2	UTSW	4	112,481,283 (GRCm39)	missense	probably damaging	1.00
R1143:Skint2	UTSW	4	112,483,133 (GRCm39)	missense	probably benign	0.00
R1564:Skint2	UTSW	4	112,483,195 (GRCm39)	missense	probably damaging	1.00
R1861:Skint2	UTSW	4	112,504,315 (GRCm39)	intron	probably benign
R1864:Skint2	UTSW	4	112,483,106 (GRCm39)	missense	probably benign	0.10
R3079:Skint2	UTSW	4	112,496,870 (GRCm39)	missense	probably benign	0.01
R3891:Skint2	UTSW	4	112,481,383 (GRCm39)	missense	probably damaging	1.00
R4422:Skint2	UTSW	4	112,441,785 (GRCm39)	intron	probably benign
R4799:Skint2	UTSW	4	112,509,305 (GRCm39)	missense	probably benign	0.07
R5458:Skint2	UTSW	4	112,481,377 (GRCm39)	missense	possibly damaging	0.83
R5482:Skint2	UTSW	4	112,483,076 (GRCm39)	missense	probably damaging	1.00
R5603:Skint2	UTSW	4	112,506,961 (GRCm39)	missense	possibly damaging	0.91
R7068:Skint2	UTSW	4	112,481,548 (GRCm39)	missense	probably damaging	1.00
R7233:Skint2	UTSW	4	112,483,122 (GRCm39)	missense	probably damaging	0.99
R7335:Skint2	UTSW	4	112,481,415 (GRCm39)	missense	probably damaging	1.00
R7516:Skint2	UTSW	4	112,483,168 (GRCm39)	missense	probably damaging	1.00
R7790:Skint2	UTSW	4	112,473,751 (GRCm39)	missense	possibly damaging	0.71
R7878:Skint2	UTSW	4	112,506,942 (GRCm39)	missense	possibly damaging	0.85
R7941:Skint2	UTSW	4	112,483,187 (GRCm39)	missense	probably damaging	1.00
R7965:Skint2	UTSW	4	112,502,648 (GRCm39)	missense	probably benign	0.17
R7976:Skint2	UTSW	4	112,481,329 (GRCm39)	missense	probably damaging	1.00
R8100:Skint2	UTSW	4	112,483,197 (GRCm39)	missense	probably damaging	0.99
R9014:Skint2	UTSW	4	112,483,026 (GRCm39)	missense	probably benign	0.00
R9114:Skint2	UTSW	4	112,496,834 (GRCm39)	missense	probably benign	0.00
R9228:Skint2	UTSW	4	112,483,039 (GRCm39)	missense	possibly damaging	0.88
R9245:Skint2	UTSW	4	112,502,616 (GRCm39)	missense	probably benign
R9336:Skint2	UTSW	4	112,483,054 (GRCm39)	missense	probably benign	0.02
R9370:Skint2	UTSW	4	112,481,259 (GRCm39)	missense	possibly damaging	0.87
R9606:Skint2	UTSW	4	112,483,147 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CATGCCTGGTAGGATGAGATCCTCTAA -3'
(R):5'- TGTGAATGTTGGTCCACAAGGAAAGT -3'

Sequencing Primer
(F):5'- GAGTTATCCAGTCATTACATGGAAC -3'
(R):5'- GGTCCACAAGGAAAGTATTTGAACTC -3'

Posted On

2013-05-24