Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Skint7'

681284

Institutional Source

Beutler Lab

Gene Symbol

Skint7

Ensembl Gene

ENSMUSG00000049214

Gene Name

selection and upkeep of intraepithelial T cells 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111972923-111988223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111982001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 164 (N164S)

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: N164S

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: N164S

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: N164S

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: N164S

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

possibly damaging
Transcript: ENSMUST00000163281
AA Change: N164S

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: N164S

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,354,368	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,708,126	F862L	probably damaging	Het
Ankrd31	T	C	13: 96,909,529	*1546Q	probably null	Het
Ankrd33b	T	C	15: 31,297,748	T288A	probably benign	Het
Aox1	T	C	1: 58,106,068	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,327,783	L231P	probably damaging	Het
C1qtnf12	T	C	4: 155,966,425	F284L	probably damaging	Het
Caprin1	A	T	2: 103,778,033	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 127,194,751	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,133,912		probably benign	Het
Ceacam14	A	G	7: 17,814,074	I30V	probably benign	Het
Chchd1	T	A	14: 20,703,317	*56R	probably null	Het
Ckap5	A	G	2: 91,579,516	T948A	probably benign	Het
Clec12a	A	T	6: 129,363,986	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,051,783	M462V	probably benign	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Csnka2ip	T	C	16: 64,480,304		probably benign	Het
D130040H23Rik	C	A	8: 69,302,381	T146N	possibly damaging	Het
Dennd5b	T	C	6: 149,041,987		probably benign	Het
E130309D02Rik	C	G	5: 143,315,040	E19Q	probably benign	Het
Fanci	A	G	7: 79,395,978	T23A	probably benign	Het
Fmnl1	T	C	11: 103,180,915	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,880,063	T289N	probably benign	Het
Gcn1l1	A	G	5: 115,595,345	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,662,324		probably null	Het
Gm5415	C	T	1: 32,546,604	R75Q	probably benign	Het
Gnl1	T	C	17: 35,983,587	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,216,319	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,769,485	D397E	possibly damaging	Het
Intu	C	T	3: 40,683,359	A425V	possibly damaging	Het
Jakmip1	G	A	5: 37,185,740		probably null	Het
Lif	C	A	11: 4,269,225	P168Q	possibly damaging	Het
Mrvi1	A	T	7: 110,878,140		probably null	Het
Myh11	A	C	16: 14,230,716	S576A	probably benign	Het
Neb	A	G	2: 52,151,413	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,463,200	N368S	probably damaging	Het
Npsr1	G	A	9: 24,313,229	V148I	probably benign	Het
Olfr1465	A	T	19: 13,314,138	L49Q	probably damaging	Het
Olfr566	C	A	7: 102,856,518	G255*	probably null	Het
Olfr599	T	C	7: 103,338,366	F104S	probably damaging	Het
Olfr683	T	A	7: 105,143,625	I223F	probably damaging	Het
Olfr857	C	T	9: 19,713,589	T254I	probably damaging	Het
Patz1	T	C	11: 3,291,856	C415R	probably damaging	Het
Pcdha9	A	T	18: 36,998,493	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,766,658	E181V	probably benign	Het
Pcnx	T	C	12: 81,971,384	Y1333H	probably damaging	Het
Phf7	A	T	14: 31,248,149		probably benign	Het
Pomc	T	G	12: 3,960,298	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,360,814		probably null	Het
Prrc2c	A	T	1: 162,708,909		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,579,906		probably benign	Het
Senp1	T	C	15: 98,042,901	K664E	probably damaging	Het
Smg1	C	A	7: 118,152,677	R2775M	probably null	Het
Snrnp27	C	T	6: 86,676,244	V131M	probably damaging	Het
Spire1	C	A	18: 67,496,616	R357L	probably damaging	Het
Sspo	G	A	6: 48,457,137	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,677,632	H335R	probably damaging	Het
Stard13	C	T	5: 151,060,802	R623H	probably damaging	Het
Syde1	T	A	10: 78,588,849	E383V	probably damaging	Het
Taf10	A	G	7: 105,744,317	M1T	probably null	Het
Traf3ip3	A	G	1: 193,187,107	C257R	probably damaging	Het
Trpm8	G	A	1: 88,348,339		probably benign	Het
Veph1	A	G	3: 66,263,880		probably null	Het
Vmn1r169	A	T	7: 23,577,215	T11S	possibly damaging	Het
Wdhd1	A	T	14: 47,245,295	S961T	probably benign	Het
Zfp773	T	C	7: 7,132,470	T376A	possibly 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
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
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
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'- GTGGATAGACATCAAATGCTAACTG -3'
(R):5'- CTGTTACAGGGTTGAAAATACAGC -3'

Sequencing Primer
(F):5'- GACATCAAATGCTAACTGGTTACTC -3'
(R):5'- CAAATGATGCTGCCATGTGAC -3'

Posted On

2021-08-31