Mutagenetix > Incidental Mutation

Incidental Mutation 'R7840:Skint7'

606204

Institutional Source

Beutler Lab

Gene Symbol

Skint7

Ensembl Gene

ENSMUSG00000049214

Gene Name

selection and upkeep of intraepithelial T cells 7

Synonyms

C130057D23Rik

MMRRC Submission

045894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111830120-111845420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111839423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 239 (C239F)

Ref Sequence

ENSEMBL: ENSMUSP00000054822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055014] [ENSMUST00000106568] [ENSMUST00000163281]

AlphaFold

A7XV04

Predicted Effect

probably benign
Transcript: ENSMUST00000055014
AA Change: C239F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: C239F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	7.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106568

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	7.82e-6	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163281

SMART Domains

Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	7.82e-6	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	285	307	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,074,689 (GRCm39)	N577S	probably benign	Het
Ang4	A	G	14: 52,001,529 (GRCm39)	S140P	probably damaging	Het
Ankdd1b	T	C	13: 96,556,306 (GRCm39)		probably null	Het
Anln	G	T	9: 22,274,019 (GRCm39)	A606D	probably benign	Het
Ano5	T	G	7: 51,237,480 (GRCm39)	V768G	possibly damaging	Het
Ccdc180	A	T	4: 45,900,461 (GRCm39)	Y275F	possibly damaging	Het
Chpf	T	C	1: 75,453,271 (GRCm39)	Y334C	probably damaging	Het
Chrdl2	T	C	7: 99,682,863 (GRCm39)	L381S	probably damaging	Het
Cibar2	T	C	8: 120,893,372 (GRCm39)	D273G	probably benign	Het
Cox20	A	T	1: 178,150,126 (GRCm39)	Y100F	probably benign	Het
Dbn1	T	C	13: 55,623,322 (GRCm39)	D433G	possibly damaging	Het
Dclre1a	A	T	19: 56,519,684 (GRCm39)	I983N	probably damaging	Het
Dok6	A	T	18: 89,578,182 (GRCm39)	H78Q	probably benign	Het
Efcab3	G	A	11: 104,624,539 (GRCm39)	D878N	probably benign	Het
Fpr1	A	T	17: 18,097,634 (GRCm39)	F118L	probably benign	Het
Fscn3	A	G	6: 28,430,175 (GRCm39)	Y115C	probably damaging	Het
Gabra4	A	C	5: 71,798,256 (GRCm39)		probably null	Het
Gm45861	T	C	8: 28,072,751 (GRCm39)	V1290A	unknown	Het
Hivep1	T	C	13: 42,308,828 (GRCm39)	V356A	probably benign	Het
Ikbip	T	C	10: 90,937,617 (GRCm39)	Y97H	possibly damaging	Het
Il10	A	G	1: 130,947,805 (GRCm39)	T53A	probably benign	Het
Inpp5f	T	C	7: 128,296,526 (GRCm39)	V959A	probably benign	Het
Insr	T	C	8: 3,308,415 (GRCm39)	E207G	probably benign	Het
Kndc1	T	A	7: 139,503,731 (GRCm39)	S1012T	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Ksr2	T	C	5: 117,693,329 (GRCm39)	V259A	probably benign	Het
Lox	A	T	18: 52,658,194 (GRCm39)	Y326*	probably null	Het
Lpin2	C	A	17: 71,537,269 (GRCm39)	T272N	probably benign	Het
Lrp2	C	T	2: 69,295,128 (GRCm39)	E3397K	probably damaging	Het
Megf11	G	A	9: 64,602,709 (GRCm39)	C850Y	possibly damaging	Het
Morc1	T	C	16: 48,319,147 (GRCm39)	F284L	probably benign	Het
Moxd2	T	A	6: 40,862,378 (GRCm39)	D147V	possibly damaging	Het
Mrpl21	T	C	19: 3,337,752 (GRCm39)	L153P	probably damaging	Het
Naip2	T	C	13: 100,280,917 (GRCm39)	T1432A	probably benign	Het
Naip6	T	A	13: 100,451,979 (GRCm39)	D211V	probably damaging	Het
Ncoa5	T	C	2: 164,854,816 (GRCm39)	H102R	possibly damaging	Het
Ndel1	A	T	11: 68,720,806 (GRCm39)	C293*	probably null	Het
Ninl	A	T	2: 150,808,016 (GRCm39)	M82K	probably benign	Het
Nrcam	G	A	12: 44,587,858 (GRCm39)		probably null	Het
Nup210l	A	T	3: 90,030,036 (GRCm39)	I250L	probably benign	Het
Obscn	T	C	11: 58,968,776 (GRCm39)	E2532G	possibly damaging	Het
Or1e1	C	A	11: 73,244,585 (GRCm39)	A2E	probably benign	Het
Or5v1	G	T	17: 37,809,868 (GRCm39)	G109C	probably damaging	Het
Or8j3c	A	G	2: 86,253,583 (GRCm39)	F146L	probably benign	Het
Osgin1	G	A	8: 120,171,773 (GRCm39)	S189N	possibly damaging	Het
Otud7b	A	G	3: 96,062,690 (GRCm39)	E643G	probably damaging	Het
Phldb2	T	A	16: 45,571,727 (GRCm39)	T1222S	probably damaging	Het
Pwp1	C	T	10: 85,723,914 (GRCm39)	R472W	probably damaging	Het
Rad21	T	C	15: 51,836,538 (GRCm39)	Y211C	probably damaging	Het
Rexo1	A	G	10: 80,386,572 (GRCm39)	V162A	probably benign	Het
Rtl1	C	T	12: 109,560,589 (GRCm39)	V417I	probably benign	Het
Setbp1	G	A	18: 78,826,639 (GRCm39)	P1325S	probably benign	Het
Shld1	A	G	2: 132,592,510 (GRCm39)	T186A	probably damaging	Het
Shld2	A	G	14: 33,959,523 (GRCm39)	Y820H	probably damaging	Het
Slc25a1	A	G	16: 17,744,138 (GRCm39)	L221P	probably benign	Het
Snrnp70	T	A	7: 45,026,214 (GRCm39)	D385V	unknown	Het
Sp7	A	C	15: 102,267,533 (GRCm39)	V109G	probably benign	Het
Syne1	A	T	10: 5,082,078 (GRCm39)	Y849N	probably damaging	Het
Tas2r108	T	C	6: 40,470,790 (GRCm39)	F89L	possibly damaging	Het
Tcf3	C	T	10: 80,246,301 (GRCm39)	A581T	possibly damaging	Het
Tcta	A	G	9: 108,182,986 (GRCm39)	L53P	probably damaging	Het
Traf3ip2	C	G	10: 39,502,451 (GRCm39)	Q200E	probably damaging	Het
Trgc1	A	T	13: 19,400,691 (GRCm39)	Y140F		Het
Tyk2	A	T	9: 21,036,263 (GRCm39)	C75S	probably damaging	Het
Ugt3a1	G	A	15: 9,311,903 (GRCm39)	G382R	probably damaging	Het
Upp2	G	T	2: 58,664,127 (GRCm39)		probably null	Het
Vmn1r212	A	T	13: 23,067,323 (GRCm39)	F337I	unknown	Het
Vmn1r58	T	C	7: 5,414,242 (GRCm39)		probably benign	Het
Vps13d	A	T	4: 144,830,246 (GRCm39)	V2856D		Het
Wdr37	A	C	13: 8,886,911 (GRCm39)	L292R	probably damaging	Het
Yipf3	T	C	17: 46,561,790 (GRCm39)	I199T	probably benign	Het
Zdhhc23	A	G	16: 43,791,907 (GRCm39)	S289P	possibly damaging	Het
Zfp229	A	T	17: 21,965,131 (GRCm39)	K454*	probably null	Het

Other mutations in Skint7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Skint7	APN	4	111,839,402 (GRCm39)	missense	probably damaging	1.00
IGL01697:Skint7	APN	4	111,837,654 (GRCm39)	splice site	probably benign
IGL01961:Skint7	APN	4	111,834,660 (GRCm39)	missense	probably benign	0.01
IGL02232:Skint7	APN	4	111,839,225 (GRCm39)	missense	possibly damaging	0.70
IGL02675:Skint7	APN	4	111,839,178 (GRCm39)	missense	probably benign	0.03
IGL02729:Skint7	APN	4	111,839,367 (GRCm39)	missense	probably benign	0.01
IGL02887:Skint7	APN	4	111,839,375 (GRCm39)	missense	possibly damaging	0.70
Fraction	UTSW	4	111,837,375 (GRCm39)	missense	probably damaging	0.99
ratio	UTSW	4	111,842,073 (GRCm39)	splice site	probably null
R0315:Skint7	UTSW	4	111,845,315 (GRCm39)	missense	possibly damaging	0.61
R0401:Skint7	UTSW	4	111,837,559 (GRCm39)	missense	probably damaging	0.96
R0545:Skint7	UTSW	4	111,837,395 (GRCm39)	missense	probably benign	0.08
R0607:Skint7	UTSW	4	111,834,656 (GRCm39)	nonsense	probably null
R0685:Skint7	UTSW	4	111,837,542 (GRCm39)	missense	possibly damaging	0.71
R1130:Skint7	UTSW	4	111,841,355 (GRCm39)	missense	probably benign	0.23
R1340:Skint7	UTSW	4	111,837,416 (GRCm39)	missense	probably damaging	1.00
R1350:Skint7	UTSW	4	111,837,521 (GRCm39)	missense	possibly damaging	0.78
R1764:Skint7	UTSW	4	111,839,270 (GRCm39)	missense	probably benign	0.00
R1804:Skint7	UTSW	4	111,839,209 (GRCm39)	missense	probably damaging	1.00
R2005:Skint7	UTSW	4	111,842,047 (GRCm39)	missense	probably benign	0.13
R2084:Skint7	UTSW	4	111,837,375 (GRCm39)	missense	probably damaging	0.99
R4651:Skint7	UTSW	4	111,839,309 (GRCm39)	missense	probably damaging	1.00
R4652:Skint7	UTSW	4	111,839,309 (GRCm39)	missense	probably damaging	1.00
R5070:Skint7	UTSW	4	111,841,331 (GRCm39)	missense	probably damaging	1.00
R5088:Skint7	UTSW	4	111,837,627 (GRCm39)	missense	possibly damaging	0.78
R5096:Skint7	UTSW	4	111,839,152 (GRCm39)	missense	probably damaging	0.98
R5311:Skint7	UTSW	4	111,837,501 (GRCm39)	missense	probably damaging	0.99
R5524:Skint7	UTSW	4	111,837,546 (GRCm39)	missense	probably damaging	1.00
R5777:Skint7	UTSW	4	111,845,289 (GRCm39)	missense	probably benign	0.29
R6208:Skint7	UTSW	4	111,842,073 (GRCm39)	splice site	probably null
R6369:Skint7	UTSW	4	111,837,490 (GRCm39)	missense	probably benign	0.16
R6752:Skint7	UTSW	4	111,837,463 (GRCm39)	missense	probably benign	0.21
R7396:Skint7	UTSW	4	111,845,324 (GRCm39)	missense	probably benign
R7633:Skint7	UTSW	4	111,841,337 (GRCm39)	missense	probably benign	0.27
R8054:Skint7	UTSW	4	111,839,426 (GRCm39)	missense	probably benign
R8253:Skint7	UTSW	4	111,834,675 (GRCm39)	nonsense	probably null
R8840:Skint7	UTSW	4	111,845,183 (GRCm39)	missense	probably benign
R8946:Skint7	UTSW	4	111,839,198 (GRCm39)	missense	possibly damaging	0.52
Z1176:Skint7	UTSW	4	111,837,326 (GRCm39)	missense	probably benign	0.01
Z1177:Skint7	UTSW	4	111,837,432 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCTGATGCTGATGGAGTC -3'
(R):5'- ACTCTCAATGGCCATCAAGG -3'

Sequencing Primer
(F):5'- TAGTAAGGGGGCAACACTTCC -3'
(R):5'- CTGCTGGTCTTCTGAAACT -3'

Posted On

2019-12-20