Mutagenetix > Incidental Mutation

Incidental Mutation 'R6208:Skint7'

503251

Institutional Source

Beutler Lab

Gene Symbol

Skint7

Ensembl Gene

ENSMUSG00000049214

Gene Name

selection and upkeep of intraepithelial T cells 7

Synonyms

MMRRC Submission

044342-MU

Accession Numbers

Essential gene?

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

Stock #

R6208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111972923-111988223 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 111984876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127347 (fasta)

Gene Model

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

AlphaFold

A7XV04

Predicted Effect

probably benign
Transcript: ENSMUST00000055014

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214

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: K314E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: K314E

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: ENSMUST00000122587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142162

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	T	3: 32,711,894	I18F	probably benign	Het
Apol11a	C	T	15: 77,517,041	R243C	probably damaging	Het
Asap3	A	G	4: 136,241,197	M687V	probably benign	Het
Axdnd1	C	T	1: 156,392,856		probably benign	Het
Baz2b	A	G	2: 59,924,806	F1026S	probably damaging	Het
Bsg	T	C	10: 79,708,838	L70P	probably damaging	Het
Col10a1	A	G	10: 34,394,586	N185D	possibly damaging	Het
Col6a2	T	A	10: 76,615,057	N50I	possibly damaging	Het
Cux2	G	A	5: 121,860,822	P1352S	possibly damaging	Het
Defa25	A	G	8: 21,085,181		probably null	Het
Emc1	G	T	4: 139,354,271	R70L	probably damaging	Het
Fat1	T	C	8: 45,027,613	F3028S	probably damaging	Het
Fhit	T	C	14: 9,573,435	E205G	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gm20830	T	G	Y: 6,916,792	E109A	probably benign	Homo
Grm1	A	T	10: 10,719,946	F646Y	probably damaging	Het
Hp1bp3	A	G	4: 138,217,170		probably benign	Het
Lce1d	G	A	3: 92,686,005	P34S	unknown	Het
Lpar1	G	A	4: 58,504,630	Q13*	probably null	Het
Lrrc61	C	T	6: 48,568,905	R221*	probably null	Het
Map2	A	G	1: 66,431,590	N328D	probably damaging	Het
Mndal	T	A	1: 173,857,422	D527V	possibly damaging	Het
Mycbp2	T	G	14: 103,295,228	N430T	probably benign	Het
Myo1e	A	G	9: 70,376,605	Y861C	probably damaging	Het
Nav2	A	G	7: 49,564,103	T1622A	probably damaging	Het
Nom1	A	T	5: 29,449,619	H773L	possibly damaging	Het
Npc2	G	T	12: 84,757,145	P144Q	probably damaging	Het
Npnt	A	G	3: 132,950,013		probably benign	Het
Nxpe4	A	T	9: 48,393,378	Y255F	probably benign	Het
Obscn	G	A	11: 59,067,648	A3769V	possibly damaging	Het
Optc	T	C	1: 133,904,999	D121G	probably damaging	Het
Pard6a	T	C	8: 105,702,234	F26L	probably damaging	Het
Pcdhga4	T	A	18: 37,686,709	I437N	probably damaging	Het
Phf12	G	T	11: 78,023,591	V71F	probably damaging	Het
Phf21b	T	A	15: 84,795,116	S282C	probably damaging	Het
Pou5f1	T	C	17: 35,510,460	F323S	possibly damaging	Het
Psmd5	A	T	2: 34,867,011	I67N	probably damaging	Het
Pyroxd1	A	G	6: 142,357,456	K273R	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpusd1	A	T	17: 25,730,378	H174L	probably damaging	Het
Ryr2	T	C	13: 11,895,220	K94R	probably benign	Het
Scn2b	A	G	9: 45,118,030	R3G	probably benign	Het
Sf3b2	A	T	19: 5,275,098	M782K	possibly damaging	Het
Slc43a1	A	G	2: 84,856,840	I319V	possibly damaging	Het
Snupn	T	A	9: 56,982,963	M356K	probably damaging	Het
Spata31d1a	C	A	13: 59,700,564	R1250M	probably damaging	Het
Sprr2h	T	C	3: 92,386,909	V21A	unknown	Het
Srpr	A	G	9: 35,215,995	T614A	possibly damaging	Het
Stk36	A	T	1: 74,611,432	Q327L	probably benign	Het
Syne3	A	G	12: 104,943,363	I738T	probably benign	Het
Tcea3	A	T	4: 136,248,049	M1L	probably damaging	Het
Tead2	G	T	7: 45,218,102	R85L	probably damaging	Het
Thap7	T	C	16: 17,528,436	N228D	possibly damaging	Het
Trip11	T	A	12: 101,898,895	E173V	probably damaging	Het
Ttc38	T	A	15: 85,841,497	M187K	possibly damaging	Het
Vmn1r193	T	A	13: 22,218,968	T285S	possibly damaging	Het
Vmn2r106	T	C	17: 20,268,329	T603A	probably damaging	Het
Vps39	A	T	2: 120,333,416	M355K	probably damaging	Het
Wnt5b	G	T	6: 119,446,512	L51I	probably damaging	Het
Xxylt1	A	G	16: 31,007,808	Y230H	probably benign	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
R0685:Skint7	UTSW	4	111980345	missense	possibly damaging	0.71
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
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'- GCATGAGATAGAAGTTAGTTGCCTG -3'
(R):5'- TGGAATCAATGAGAGCAGCTCC -3'

Sequencing Primer
(F):5'- CATCTGGATGCCTGTCTA -3'
(R):5'- AATGAGAGCAGCTCCAGTCCTTG -3'

Posted On

2018-02-27