Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Skint7'

218479

Institutional Source

Beutler Lab

Gene Symbol

Skint7

Ensembl Gene

ENSMUSG00000049214

Gene Name

selection and upkeep of intraepithelial T cells 7

Synonyms

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0685 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

111972923-111988223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111980345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 107 (S107P)

Ref Sequence

ENSEMBL: ENSMUSP00000127347 (fasta)

Gene Model

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

AlphaFold

A7XV04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055014
AA Change: S107P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: S107P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106568
AA Change: S107P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: S107P

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

noncoding transcript
Transcript: ENSMUST00000142162

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163281
AA Change: S107P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: S107P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Hectd2	T	A	19: 36,569,431	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Lin37	T	C	7: 30,555,874	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820	S132*	probably null	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Rnf6	A	C	5: 146,211,658	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814		probably benign	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	probably damaging	Het

Other mutations in Skint7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Skint7	APN	4	111982205	missense	probably damaging	1.00
IGL01697:Skint7	APN	4	111980457	splice site	probably benign
IGL01961:Skint7	APN	4	111977463	missense	probably benign	0.01
IGL02232:Skint7	APN	4	111982028	missense	possibly damaging	0.70
IGL02675:Skint7	APN	4	111981981	missense	probably benign	0.03
IGL02729:Skint7	APN	4	111982170	missense	probably benign	0.01
IGL02887:Skint7	APN	4	111982178	missense	possibly damaging	0.70
Fraction	UTSW	4	111980178	missense	probably damaging	0.99
ratio	UTSW	4	111984876	splice site	probably null
R0315:Skint7	UTSW	4	111988118	missense	possibly damaging	0.61
R0401:Skint7	UTSW	4	111980362	missense	probably damaging	0.96
R0545:Skint7	UTSW	4	111980198	missense	probably benign	0.08
R0607:Skint7	UTSW	4	111977459	nonsense	probably null
R1130:Skint7	UTSW	4	111984158	missense	probably benign	0.23
R1340:Skint7	UTSW	4	111980219	missense	probably damaging	1.00
R1350:Skint7	UTSW	4	111980324	missense	possibly damaging	0.78
R1764:Skint7	UTSW	4	111982073	missense	probably benign	0.00
R1804:Skint7	UTSW	4	111982012	missense	probably damaging	1.00
R2005:Skint7	UTSW	4	111984850	missense	probably benign	0.13
R2084:Skint7	UTSW	4	111980178	missense	probably damaging	0.99
R4651:Skint7	UTSW	4	111982112	missense	probably damaging	1.00
R4652:Skint7	UTSW	4	111982112	missense	probably damaging	1.00
R5070:Skint7	UTSW	4	111984134	missense	probably damaging	1.00
R5088:Skint7	UTSW	4	111980430	missense	possibly damaging	0.78
R5096:Skint7	UTSW	4	111981955	missense	probably damaging	0.98
R5311:Skint7	UTSW	4	111980304	missense	probably damaging	0.99
R5524:Skint7	UTSW	4	111980349	missense	probably damaging	1.00
R5777:Skint7	UTSW	4	111988092	missense	probably benign	0.29
R6208:Skint7	UTSW	4	111984876	splice site	probably null
R6369:Skint7	UTSW	4	111980293	missense	probably benign	0.16
R6752:Skint7	UTSW	4	111980266	missense	probably benign	0.21
R7396:Skint7	UTSW	4	111988127	missense	probably benign
R7633:Skint7	UTSW	4	111984140	missense	probably benign	0.27
R7840:Skint7	UTSW	4	111982226	missense	probably benign
R8054:Skint7	UTSW	4	111982229	missense	probably benign
R8253:Skint7	UTSW	4	111977478	nonsense	probably null
R8840:Skint7	UTSW	4	111987986	missense	probably benign
R8946:Skint7	UTSW	4	111982001	missense	possibly damaging	0.52
Z1176:Skint7	UTSW	4	111980129	missense	probably benign	0.01
Z1177:Skint7	UTSW	4	111980235	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAAACTGAGGGTAACTACTCCCAC -3'
(R):5'- TCCATTTATTGGGCACAAAGACACTGG -3'

Sequencing Primer
(F):5'- TACTCCCACAAGACACCTGTTAG -3'
(R):5'- GTATACTGTGCTCCACAAACAAC -3'

Posted On

2014-08-11