Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Skint7'

512838

Institutional Source

Beutler Lab

Gene Symbol

Skint7

Ensembl Gene

ENSMUSG00000049214

Gene Name

selection and upkeep of intraepithelial T cells 7

Synonyms

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

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

Stock #

R6369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111972923-111988223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111980293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 89 (E89D)

Ref Sequence

ENSEMBL: ENSMUSP00000127347 (fasta)

Gene Model

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

AlphaFold

A7XV04

Predicted Effect

probably benign
Transcript: ENSMUST00000055014
AA Change: E89D

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: E89D

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
AA Change: E89D

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: E89D

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

probably benign
Transcript: ENSMUST00000163281
AA Change: E89D

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: E89D

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

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
R6208:Skint7	UTSW	4	111984876	splice site	probably null
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'- GAGAAACTGAGGGTAACTACTCC -3'
(R):5'- CCATTTATTGGGCACAAAGACAC -3'

Sequencing Primer
(F):5'- TGAGGGTAACTACTCCCACAAG -3'
(R):5'- TGGTATACTGTGCTCCACAAAC -3'

Posted On

2018-04-27