Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Skint2'

692398

Institutional Source

Beutler Lab

Gene Symbol

Skint2

Ensembl Gene

ENSMUSG00000034359

Gene Name

selection and upkeep of intraepithelial T cells 2

Synonyms

OTTMUSG00000008540, B7S3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112470795-112509445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112496834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 247 (T247A)

Ref Sequence

ENSEMBL: ENSMUSP00000139831 (fasta)

Gene Model

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

AlphaFold

A7XUX6

Predicted Effect

probably benign
Transcript: ENSMUST00000106560
AA Change: T247A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: T247A

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 benign
Transcript: ENSMUST00000186969
AA Change: T247A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: T247A

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,788,702 (GRCm39)	L1027*	probably null	Het
Actl11	T	A	9: 107,808,509 (GRCm39)	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,906,427 (GRCm39)	K491E	probably damaging	Het
Ahr	A	T	12: 35,561,164 (GRCm39)	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,607,304 (GRCm39)	L17Q	probably damaging	Het
Bysl	A	G	17: 47,915,242 (GRCm39)	S169P		Het
C4b	A	T	17: 34,948,404 (GRCm39)	F1610I	probably damaging	Het
Chtf8	C	A	8: 107,612,481 (GRCm39)	A153S	probably benign	Het
Ciapin1	C	T	8: 95,558,400 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,429,395 (GRCm39)	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,225,407 (GRCm39)	N155S	probably benign	Het
Dclk3	T	A	9: 111,317,683 (GRCm39)	M773K	probably benign	Het
Ddx18	A	T	1: 121,489,267 (GRCm39)	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,307,321 (GRCm39)	N2216Y		Het
Epn2	T	C	11: 61,437,446 (GRCm39)	E42G	probably damaging	Het
Esrrg	C	A	1: 187,878,605 (GRCm39)	P229T	probably benign	Het
Esrrg	C	A	1: 187,878,606 (GRCm39)	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,305,643 (GRCm39)	R130L	probably benign	Het
Fgl2	G	A	5: 21,580,363 (GRCm39)	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,087,327 (GRCm39)	T890M	unknown	Het
Fsip2	C	G	2: 82,807,301 (GRCm39)	P1207A	probably benign	Het
Gc	C	T	5: 89,593,165 (GRCm39)	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,869,370 (GRCm39)	R287W	probably damaging	Het
Gm3629	T	C	14: 17,834,566 (GRCm39)		probably null	Het
Hapln3	A	G	7: 78,771,712 (GRCm39)	F59S	probably benign	Het
Il24	G	A	1: 130,813,483 (GRCm39)	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,276,583 (GRCm39)	D382G	probably benign	Het
Kdm5a	T	A	6: 120,382,887 (GRCm39)	Y739*	probably null	Het
Kif2b	T	A	11: 91,466,538 (GRCm39)	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,288,783 (GRCm39)	Y31C	probably damaging	Het
Lama1	G	A	17: 68,128,669 (GRCm39)	E3009K		Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Mark1	A	C	1: 184,644,261 (GRCm39)	S468A	probably damaging	Het
Mknk2	T	A	10: 80,504,823 (GRCm39)	N236Y	probably damaging	Het
Muc2	T	A	7: 141,287,983 (GRCm39)	C251*	probably null	Het
Nacad	T	C	11: 6,552,252 (GRCm39)	D313G	probably damaging	Het
Neb	G	T	2: 52,099,599 (GRCm39)	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,506,332 (GRCm39)	S758P	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or13a28	A	C	7: 140,218,282 (GRCm39)	I223L	probably benign	Het
Or51b4	T	C	7: 103,530,569 (GRCm39)	T294A	possibly damaging	Het
Or8b3b	A	G	9: 38,583,892 (GRCm39)	F283L	probably benign	Het
Oxtr	A	G	6: 112,466,481 (GRCm39)	V93A	probably damaging	Het
Pbx3	C	A	2: 34,103,271 (GRCm39)	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,459,826 (GRCm39)	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pid1	A	T	1: 84,015,955 (GRCm39)	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,591,307 (GRCm39)	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,789 (GRCm39)	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,485,792 (GRCm39)	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,999,957 (GRCm39)	V71D	probably damaging	Het
Rpap2	T	G	5: 107,746,156 (GRCm39)	H11Q	possibly damaging	Het
Stat5b	T	A	11: 100,692,350 (GRCm39)	N145Y	probably damaging	Het
Sv2b	A	G	7: 74,856,017 (GRCm39)	L91P	probably damaging	Het
Syt1	A	G	10: 108,340,376 (GRCm39)	I314T	probably damaging	Het
Tlk1	A	T	2: 70,572,502 (GRCm39)	N355K	probably benign	Het
Tnc	C	A	4: 63,890,973 (GRCm39)	M1636I	probably benign	Het
Trank1	C	A	9: 111,162,843 (GRCm39)	A34D	probably damaging	Het
Unc13c	A	G	9: 73,719,665 (GRCm39)	I1001T	probably benign	Het
Vdr	T	C	15: 97,765,136 (GRCm39)	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr81	C	A	11: 75,335,250 (GRCm39)	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,442,068 (GRCm39)	D169G	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
R0190:Skint2	UTSW	4	112,473,729 (GRCm39)	missense	possibly damaging	0.85
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
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'- GACCCTTCATACTTGCCTAGGC -3'
(R):5'- AAAGCTTCATCTGCAAAAGCAG -3'

Sequencing Primer
(F):5'- ATACTTGCCTAGGCCTGATATTCTAG -3'
(R):5'- GGACATATATAACATGTGACCCAAG -3'

Posted On

2021-12-30