Mutagenetix > Incidental Mutation

Incidental Mutation 'R5083:Skint1'

387240

Institutional Source

Beutler Lab

Gene Symbol

Skint1

Ensembl Gene

ENSMUSG00000089773

Gene Name

selection and upkeep of intraepithelial T cells 1

Synonyms

MMRRC Submission

042672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111863466-111886735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111886630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 359 (R359G)

Ref Sequence

ENSEMBL: ENSMUSP00000124737 (fasta)

Gene Model

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

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
AA Change: R359G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: R359G

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	C	T	17: 48,473,558 (GRCm39)	V120M	possibly damaging	Het
Abca6	T	C	11: 110,109,793 (GRCm39)	D646G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arid1b	A	G	17: 5,364,293 (GRCm39)	T554A	possibly damaging	Het
Atp2a3	G	T	11: 72,873,652 (GRCm39)	V824L	probably null	Het
Bet1	T	C	6: 4,077,895 (GRCm39)	I115V	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cfap65	A	G	1: 74,945,600 (GRCm39)	S1373P	probably damaging	Het
Chd9	T	C	8: 91,711,002 (GRCm39)	L353P	probably damaging	Het
Chil3	C	A	3: 106,071,405 (GRCm39)		probably null	Het
Comp	C	T	8: 70,833,950 (GRCm39)	T655M	probably damaging	Het
Dctd	T	C	8: 48,564,751 (GRCm39)	Y18H	probably damaging	Het
Ddx39b	G	A	17: 35,472,005 (GRCm39)	G348D	possibly damaging	Het
Dhx36	A	T	3: 62,379,420 (GRCm39)	S889R	probably benign	Het
Dtx2	T	C	5: 136,041,044 (GRCm39)	Y150H	probably damaging	Het
Epx	A	G	11: 87,763,506 (GRCm39)	F238S	probably damaging	Het
Ergic2	T	C	6: 148,097,512 (GRCm39)	T154A	probably benign	Het
Esco1	A	G	18: 10,594,734 (GRCm39)	I184T	probably benign	Het
Esf1	G	T	2: 139,998,991 (GRCm39)	A495E	possibly damaging	Het
Esf1	T	C	2: 140,000,499 (GRCm39)	Y429C	possibly damaging	Het
Fcho1	C	A	8: 72,169,820 (GRCm39)	R101L	probably benign	Het
Foxn4	T	A	5: 114,394,988 (GRCm39)	D313V	probably damaging	Het
Gm11568	T	C	11: 99,748,798 (GRCm39)	M1T	probably null	Het
Gphn	T	A	12: 78,670,063 (GRCm39)		probably null	Het
Grid2	C	T	6: 64,297,136 (GRCm39)	Q500*	probably null	Het
Igsf10	A	G	3: 59,233,694 (GRCm39)	S1680P	probably damaging	Het
Ints12	T	C	3: 132,806,538 (GRCm39)	M155T	possibly damaging	Het
Invs	A	T	4: 48,396,307 (GRCm39)	M327L	possibly damaging	Het
Kdm3a	T	C	6: 71,598,346 (GRCm39)	E180G	probably damaging	Het
Mgat3	G	A	15: 80,095,499 (GRCm39)	V109M	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,762 (GRCm39)	V263A	probably benign	Het
Mroh7	A	T	4: 106,547,515 (GRCm39)	V1109D	probably benign	Het
Myo15b	A	T	11: 115,757,482 (GRCm39)	T1111S	probably benign	Het
Myo19	G	T	11: 84,794,037 (GRCm39)	A654S	possibly damaging	Het
Mypn	A	T	10: 62,954,307 (GRCm39)	V1224D	probably damaging	Het
Nalcn	A	G	14: 123,560,706 (GRCm39)		probably null	Het
Or2a52	G	T	6: 43,144,273 (GRCm39)	A94S	probably benign	Het
Or52e7	A	T	7: 104,684,618 (GRCm39)	Y71F	probably damaging	Het
Or8c10	G	A	9: 38,279,358 (GRCm39)	C172Y	possibly damaging	Het
Pdcd2	A	G	17: 15,743,084 (GRCm39)	I247T	possibly damaging	Het
Pik3c2a	A	T	7: 115,941,636 (GRCm39)	N1571K	probably damaging	Het
Plagl2	T	C	2: 153,077,964 (GRCm39)	T6A	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sdccag8	C	A	1: 176,652,458 (GRCm39)	H70N	probably damaging	Het
Slc44a5	A	T	3: 153,953,424 (GRCm39)	I269L	probably benign	Het
Slfn10-ps	T	A	11: 82,921,341 (GRCm39)		noncoding transcript	Het
Suclg1	C	A	6: 73,240,963 (GRCm39)	T164K	probably benign	Het
Tgds	C	A	14: 118,353,491 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,643,877 (GRCm39)	D13117G	probably damaging	Het
Ttn	T	C	2: 76,701,081 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,483,671 (GRCm39)	I843N	possibly damaging	Het
Vmn2r52	A	T	7: 9,893,392 (GRCm39)	Y582*	probably null	Het
Vps33b	G	T	7: 79,924,389 (GRCm39)	K65N	probably damaging	Het
Zfp1010	A	G	2: 176,957,364 (GRCm39)	F45L	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
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
R5974:Skint1	UTSW	4	111,876,516 (GRCm39)	missense	probably benign	0.02
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'- ATTCTCTGAAGGCTTGTAAGGTTTC -3'
(R):5'- ACAGTTCAGTCTCTGTGATCC -3'

Sequencing Primer
(F):5'- GATAATGTTGGTCCAGCTTGACACC -3'
(R):5'- TGTGATCCTTTTTCAATCCACATTAG -3'

Posted On

2016-06-06