Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Skint1'

471603

Institutional Source

Beutler Lab

Gene Symbol

Skint1

Ensembl Gene

ENSMUSG00000089773

Gene Name

selection and upkeep of intraepithelial T cells 1

Synonyms

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111863466-111886735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111876516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 146 (S146T)

Ref Sequence

ENSEMBL: ENSMUSP00000125625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117379] [ENSMUST00000161389] [ENSMUST00000162158] [ENSMUST00000162885]

AlphaFold

A7TZE6

Predicted Effect

probably benign
Transcript: ENSMUST00000117379

SMART Domains

Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773

Domain	Start	End	E-Value	Type
IGv	44	125	1.88e-8	SMART
Pfam:C2-set_2	142	228	2.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161389

SMART Domains

Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773

Domain	Start	End	E-Value	Type
IGv	44	125	1.88e-8	SMART
Pfam:C2-set_2	142	228	3.1e-6	PFAM
transmembrane domain	248	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162158

SMART Domains

Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IGv	44	125	1.88e-8	SMART
transmembrane domain	247	269	N/A	INTRINSIC
transmembrane domain	282	304	N/A	INTRINSIC
transmembrane domain	326	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162885
AA Change: S146T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
AA Change: S146T

Domain	Start	End	E-Value	Type
IGv	44	125	1.88e-8	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a point mutation allele exhibit impaired T cell differentiation with reduced Vgamma5+Vdelta1+ T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	probably damaging	Het

Other mutations in Skint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Skint1	APN	4	111,878,777 (GRCm39)	critical splice donor site	probably null
IGL01890:Skint1	APN	4	111,867,878 (GRCm39)	missense	probably damaging	1.00
IGL02020:Skint1	APN	4	111,882,724 (GRCm39)	missense	probably benign	0.08
IGL02045:Skint1	APN	4	111,882,727 (GRCm39)	missense	possibly damaging	0.80
R0421:Skint1	UTSW	4	111,876,211 (GRCm39)	missense	possibly damaging	0.74
R0544:Skint1	UTSW	4	111,878,562 (GRCm39)	missense	probably damaging	1.00
R0617:Skint1	UTSW	4	111,886,596 (GRCm39)	splice site	probably benign
R0881:Skint1	UTSW	4	111,886,054 (GRCm39)	missense	probably benign	0.04
R0973:Skint1	UTSW	4	111,885,412 (GRCm39)	splice site	probably benign
R1036:Skint1	UTSW	4	111,876,493 (GRCm39)	missense	possibly damaging	0.71
R1469:Skint1	UTSW	4	111,882,708 (GRCm39)	missense	probably benign	0.00
R1469:Skint1	UTSW	4	111,882,708 (GRCm39)	missense	probably benign	0.00
R2029:Skint1	UTSW	4	111,878,653 (GRCm39)	splice site	probably null
R2063:Skint1	UTSW	4	111,882,730 (GRCm39)	missense	probably benign	0.00
R2064:Skint1	UTSW	4	111,882,730 (GRCm39)	missense	probably benign	0.00
R2065:Skint1	UTSW	4	111,882,730 (GRCm39)	missense	probably benign	0.00
R2066:Skint1	UTSW	4	111,882,730 (GRCm39)	missense	probably benign	0.00
R2067:Skint1	UTSW	4	111,882,730 (GRCm39)	missense	probably benign	0.00
R2372:Skint1	UTSW	4	111,876,348 (GRCm39)	missense	probably damaging	1.00
R2518:Skint1	UTSW	4	111,882,678 (GRCm39)	missense	probably benign	0.25
R2971:Skint1	UTSW	4	111,878,527 (GRCm39)	missense	possibly damaging	0.50
R4656:Skint1	UTSW	4	111,878,674 (GRCm39)	missense	probably damaging	1.00
R4993:Skint1	UTSW	4	111,885,530 (GRCm39)	critical splice donor site	probably null
R5083:Skint1	UTSW	4	111,886,630 (GRCm39)	missense	probably benign	0.01
R5450:Skint1	UTSW	4	111,882,729 (GRCm39)	missense	probably benign	0.00
R5583:Skint1	UTSW	4	111,876,253 (GRCm39)	missense	probably damaging	1.00
R5645:Skint1	UTSW	4	111,882,699 (GRCm39)	missense	probably benign	0.41
R5877:Skint1	UTSW	4	111,878,720 (GRCm39)	nonsense	probably null
R5950:Skint1	UTSW	4	111,876,532 (GRCm39)	missense	probably benign
R6216:Skint1	UTSW	4	111,878,679 (GRCm39)	missense	probably benign	0.00
R6494:Skint1	UTSW	4	111,867,909 (GRCm39)	missense	probably benign	0.06
R7348:Skint1	UTSW	4	111,878,770 (GRCm39)	missense	probably damaging	1.00
R7752:Skint1	UTSW	4	111,876,399 (GRCm39)	missense	probably damaging	1.00
R7901:Skint1	UTSW	4	111,876,399 (GRCm39)	missense	probably damaging	1.00
R8515:Skint1	UTSW	4	111,867,921 (GRCm39)	missense	probably benign	0.10
R9417:Skint1	UTSW	4	111,878,509 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TACAGAGATGGCAAAGACATGTTTG -3'
(R):5'- CTGGCAATCTCTTTAAAGCAAAATCGG -3'

Sequencing Primer
(F):5'- GCAAAGACATGTTTGGAGAAATTATC -3'
(R):5'- CGGAATTTACTCATAGACTTGATGTG -3'

Posted On

2017-03-31