Mutagenetix > Incidental Mutation

Incidental Mutation 'R7003:Skint6'

544651

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

045108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112661813-113144170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112963109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 441 (Y441H)

Ref Sequence

ENSEMBL: ENSMUSP00000132312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138966] [ENSMUST00000171224]

AlphaFold

A7XUZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000138966
AA Change: Y441H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000121870
Gene: ENSMUSG00000087194
AA Change: Y441H

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.32e-8	SMART
internal_repeat_1	219	594	1.11e-41	PROSPERO
low complexity region	601	610	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC
internal_repeat_1	701	1076	1.11e-41	PROSPERO
transmembrane domain	1087	1104	N/A	INTRINSIC
transmembrane domain	1164	1186	N/A	INTRINSIC
transmembrane domain	1206	1228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171224
AA Change: Y441H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000132312
Gene: ENSMUSG00000087194
AA Change: Y441H

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.32e-8	SMART
internal_repeat_1	219	594	1.11e-41	PROSPERO
low complexity region	601	610	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC
internal_repeat_1	701	1076	1.11e-41	PROSPERO
transmembrane domain	1087	1104	N/A	INTRINSIC
transmembrane domain	1164	1186	N/A	INTRINSIC
transmembrane domain	1206	1228	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,490 (GRCm39)	I275N	probably damaging	Het
Actr3b	A	C	5: 26,003,461 (GRCm39)	Y21S	probably damaging	Het
Adam6b	C	T	12: 113,453,662 (GRCm39)	Q160*	probably null	Het
Adgrv1	C	T	13: 81,670,223 (GRCm39)		probably null	Het
Akr1c6	A	G	13: 4,504,514 (GRCm39)	N300D	probably benign	Het
Alox8	T	C	11: 69,082,416 (GRCm39)	D170G	possibly damaging	Het
Amhr2	A	G	15: 102,354,768 (GRCm39)	N40S	probably benign	Het
Ap2a2	A	G	7: 141,209,109 (GRCm39)	N767S	probably benign	Het
Armc3	T	C	2: 19,274,839 (GRCm39)	I358T	probably damaging	Het
Atg2b	A	G	12: 105,620,508 (GRCm39)	S732P	probably benign	Het
Atp12a	A	G	14: 56,610,837 (GRCm39)	Y327C	possibly damaging	Het
Bcr	T	C	10: 74,897,393 (GRCm39)	V179A	probably benign	Het
Cep104	T	C	4: 154,078,018 (GRCm39)	L642P	probably benign	Het
Clspn	T	A	4: 126,486,513 (GRCm39)	S1302R	possibly damaging	Het
Cmip	T	C	8: 118,111,727 (GRCm39)	F153L	probably benign	Het
Cplane1	T	G	15: 8,258,246 (GRCm39)	L2164R	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,521 (GRCm39)	D97G	probably damaging	Het
Dok7	A	T	5: 35,236,899 (GRCm39)	T396S	probably benign	Het
Dsel	C	T	1: 111,788,025 (GRCm39)	V837I	probably benign	Het
Etl4	C	T	2: 20,810,695 (GRCm39)	T926I	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gpr155	A	G	2: 73,173,961 (GRCm39)	I816T	probably damaging	Het
Hpn	C	T	7: 30,810,367 (GRCm39)		probably benign	Het
Inpp5e	A	G	2: 26,287,877 (GRCm39)	S640P	probably benign	Het
Irs3	C	T	5: 137,643,539 (GRCm39)	V82I	probably benign	Het
Kif16b	A	C	2: 142,600,749 (GRCm39)	D461E	possibly damaging	Het
Krba1	A	G	6: 48,390,014 (GRCm39)	T592A	possibly damaging	Het
Lgsn	T	A	1: 31,243,024 (GRCm39)	S369T	possibly damaging	Het
Lrrc4b	C	T	7: 44,094,580 (GRCm39)	P83S	probably damaging	Het
Mplkipl1	A	G	19: 61,164,319 (GRCm39)	S39P	possibly damaging	Het
Neil3	T	C	8: 54,054,001 (GRCm39)	T343A	possibly damaging	Het
Nt5e	A	G	9: 88,246,805 (GRCm39)	Y347C	probably damaging	Het
Or1j1	A	G	2: 36,703,047 (GRCm39)	I19T	possibly damaging	Het
Or2d3b	A	T	7: 106,514,319 (GRCm39)	T305S	probably benign	Het
Or2f2	C	T	6: 42,767,399 (GRCm39)	T142I	probably benign	Het
Or8g26	A	T	9: 39,096,239 (GRCm39)	Y255F	probably benign	Het
P2rx5	T	C	11: 73,058,800 (GRCm39)		probably null	Het
Phtf2	A	G	5: 20,999,399 (GRCm39)	V248A	probably benign	Het
Plekhd1	T	C	12: 80,768,734 (GRCm39)	C406R	possibly damaging	Het
Plod3	T	A	5: 137,018,498 (GRCm39)	N245K	probably damaging	Het
Polr3c	G	T	3: 96,630,954 (GRCm39)	H155Q	possibly damaging	Het
Psap	T	A	10: 60,135,276 (GRCm39)	C317S	probably damaging	Het
Rif1	A	G	2: 51,967,001 (GRCm39)	I97V	probably benign	Het
Rnf123	T	A	9: 107,940,882 (GRCm39)		probably null	Het
Rnf19a	G	A	15: 36,254,650 (GRCm39)	R303*	probably null	Het
Sdk1	G	A	5: 142,082,489 (GRCm39)	V1036I	probably benign	Het
Shc3	T	A	13: 51,620,588 (GRCm39)	Y146F	probably benign	Het
Slc7a12	T	C	3: 14,570,580 (GRCm39)	I173T	probably damaging	Het
Spesp1	A	T	9: 62,189,302 (GRCm39)	S15T	possibly damaging	Het
Tarm1	A	T	7: 3,545,939 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,693,479 (GRCm39)	Y1817C	probably damaging	Het
Ttc9c	A	T	19: 8,795,904 (GRCm39)	L45Q	probably damaging	Het
Ube3a	C	T	7: 58,926,188 (GRCm39)	T322I	probably damaging	Het
Vac14	T	A	8: 111,439,430 (GRCm39)	V669E	probably damaging	Het
Vmn1r225	A	G	17: 20,723,416 (GRCm39)	M286V	probably null	Het
Zfp658	A	G	7: 43,224,172 (GRCm39)	K816E	possibly damaging	Het
Zfp846	T	C	9: 20,499,188 (GRCm39)	M1T	probably null	Het

Other mutations in Skint6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Skint6	APN	4	112,661,879 (GRCm39)	missense	possibly damaging	0.96
IGL01296:Skint6	APN	4	113,093,637 (GRCm39)	missense	probably benign	0.37
IGL01343:Skint6	APN	4	113,140,823 (GRCm39)	missense	probably benign	0.07
IGL01543:Skint6	APN	4	112,757,160 (GRCm39)	missense	probably benign	0.18
IGL01633:Skint6	APN	4	113,095,246 (GRCm39)	missense	probably damaging	1.00
IGL01818:Skint6	APN	4	112,805,766 (GRCm39)	missense	probably benign	0.18
IGL02124:Skint6	APN	4	112,944,993 (GRCm39)	missense	probably benign
IGL02517:Skint6	APN	4	112,805,737 (GRCm39)	splice site	probably benign
IGL02647:Skint6	APN	4	112,985,088 (GRCm39)	splice site	probably benign
IGL02887:Skint6	APN	4	113,095,381 (GRCm39)	nonsense	probably null
IGL03026:Skint6	APN	4	112,848,441 (GRCm39)	splice site	probably null
IGL03030:Skint6	APN	4	112,870,153 (GRCm39)	missense	probably benign	0.03
meissner	UTSW	4	112,661,891 (GRCm39)	missense	possibly damaging	0.86
Tegmentum	UTSW	4	112,700,019 (GRCm39)	splice site	probably null
PIT4576001:Skint6	UTSW	4	112,910,564 (GRCm39)	missense	possibly damaging	0.91
R0058:Skint6	UTSW	4	112,904,012 (GRCm39)	splice site	probably benign
R0058:Skint6	UTSW	4	112,904,012 (GRCm39)	splice site	probably benign
R0099:Skint6	UTSW	4	112,668,698 (GRCm39)	missense	possibly damaging	0.53
R0158:Skint6	UTSW	4	113,042,011 (GRCm39)	splice site	probably benign
R0164:Skint6	UTSW	4	112,848,433 (GRCm39)	splice site	probably benign
R0312:Skint6	UTSW	4	112,666,297 (GRCm39)	missense	possibly damaging	0.86
R0591:Skint6	UTSW	4	112,715,366 (GRCm39)	splice site	probably benign
R0762:Skint6	UTSW	4	112,722,848 (GRCm39)	splice site	probably benign
R0941:Skint6	UTSW	4	113,095,555 (GRCm39)	missense	probably damaging	1.00
R1023:Skint6	UTSW	4	113,095,300 (GRCm39)	missense	probably benign	0.20
R1132:Skint6	UTSW	4	112,755,296 (GRCm39)	critical splice donor site	probably null
R1228:Skint6	UTSW	4	112,711,649 (GRCm39)	missense	probably benign
R1338:Skint6	UTSW	4	112,870,158 (GRCm39)	missense	possibly damaging	0.53
R1432:Skint6	UTSW	4	112,726,721 (GRCm39)	splice site	probably benign
R1512:Skint6	UTSW	4	113,095,329 (GRCm39)	missense	probably damaging	1.00
R1577:Skint6	UTSW	4	113,005,720 (GRCm39)	missense	possibly damaging	0.53
R1733:Skint6	UTSW	4	113,034,234 (GRCm39)	splice site	probably benign
R1762:Skint6	UTSW	4	113,093,678 (GRCm39)	missense	probably damaging	0.98
R1891:Skint6	UTSW	4	112,703,893 (GRCm39)	missense	possibly damaging	0.85
R1908:Skint6	UTSW	4	112,749,187 (GRCm39)	missense	probably benign
R2069:Skint6	UTSW	4	113,095,329 (GRCm39)	missense	probably damaging	1.00
R2089:Skint6	UTSW	4	112,703,881 (GRCm39)	missense	probably benign
R2091:Skint6	UTSW	4	112,703,881 (GRCm39)	missense	probably benign
R2091:Skint6	UTSW	4	112,703,881 (GRCm39)	missense	probably benign
R2144:Skint6	UTSW	4	113,093,457 (GRCm39)	missense	possibly damaging	0.84
R2166:Skint6	UTSW	4	112,711,649 (GRCm39)	missense	probably benign	0.01
R2192:Skint6	UTSW	4	112,722,909 (GRCm39)	nonsense	probably null
R2267:Skint6	UTSW	4	112,700,019 (GRCm39)	splice site	probably null
R2312:Skint6	UTSW	4	113,095,339 (GRCm39)	missense	probably damaging	1.00
R2324:Skint6	UTSW	4	112,729,654 (GRCm39)	splice site	probably null
R2342:Skint6	UTSW	4	113,034,180 (GRCm39)	missense	probably benign	0.00
R3028:Skint6	UTSW	4	113,093,690 (GRCm39)	missense	possibly damaging	0.92
R3704:Skint6	UTSW	4	112,993,669 (GRCm39)	missense	possibly damaging	0.86
R3752:Skint6	UTSW	4	112,700,096 (GRCm39)	splice site	probably benign
R3760:Skint6	UTSW	4	112,794,655 (GRCm39)	missense	possibly damaging	0.53
R3827:Skint6	UTSW	4	112,794,634 (GRCm39)	missense	probably benign
R4377:Skint6	UTSW	4	113,093,715 (GRCm39)	missense	possibly damaging	0.90
R4406:Skint6	UTSW	4	113,013,683 (GRCm39)	missense	probably benign	0.01
R4611:Skint6	UTSW	4	112,931,273 (GRCm39)	missense	probably benign
R4780:Skint6	UTSW	4	113,093,594 (GRCm39)	missense	probably damaging	0.98
R4788:Skint6	UTSW	4	113,095,533 (GRCm39)	missense	possibly damaging	0.54
R4818:Skint6	UTSW	4	112,812,589 (GRCm39)	intron	probably benign
R4900:Skint6	UTSW	4	112,924,667 (GRCm39)	missense	probably benign	0.03
R4972:Skint6	UTSW	4	112,692,265 (GRCm39)	missense	probably benign
R5008:Skint6	UTSW	4	112,848,452 (GRCm39)	missense	possibly damaging	0.86
R5016:Skint6	UTSW	4	113,028,730 (GRCm39)	critical splice acceptor site	probably null
R5085:Skint6	UTSW	4	113,093,465 (GRCm39)	missense	probably damaging	0.99
R5165:Skint6	UTSW	4	112,722,865 (GRCm39)	missense	possibly damaging	0.86
R5221:Skint6	UTSW	4	112,752,121 (GRCm39)	splice site	probably null
R5310:Skint6	UTSW	4	113,041,965 (GRCm39)	nonsense	probably null
R5423:Skint6	UTSW	4	112,707,937 (GRCm39)	missense	possibly damaging	0.93
R5436:Skint6	UTSW	4	112,953,788 (GRCm39)	missense	probably benign	0.08
R5447:Skint6	UTSW	4	112,963,106 (GRCm39)	missense	probably benign	0.34
R5564:Skint6	UTSW	4	112,846,162 (GRCm39)	missense	possibly damaging	0.72
R5629:Skint6	UTSW	4	112,870,176 (GRCm39)	missense	possibly damaging	0.86
R5936:Skint6	UTSW	4	112,953,790 (GRCm39)	missense	probably benign	0.33
R5993:Skint6	UTSW	4	112,666,276 (GRCm39)	missense	probably benign	0.02
R6027:Skint6	UTSW	4	112,953,761 (GRCm39)	splice site	probably null
R6174:Skint6	UTSW	4	112,696,510 (GRCm39)	missense	possibly damaging	0.53
R6497:Skint6	UTSW	4	113,093,595 (GRCm39)	missense	probably damaging	0.98
R6552:Skint6	UTSW	4	112,924,687 (GRCm39)	missense	possibly damaging	0.86
R6645:Skint6	UTSW	4	112,749,235 (GRCm39)	missense	possibly damaging	0.53
R6810:Skint6	UTSW	4	112,805,577 (GRCm39)	splice site	probably null
R7211:Skint6	UTSW	4	113,095,566 (GRCm39)	missense	probably benign	0.09
R7269:Skint6	UTSW	4	112,711,686 (GRCm39)	splice site	probably null
R7398:Skint6	UTSW	4	112,755,335 (GRCm39)	missense	probably benign	0.00
R7438:Skint6	UTSW	4	113,095,425 (GRCm39)	missense	probably damaging	1.00
R7461:Skint6	UTSW	4	113,034,243 (GRCm39)	splice site	probably null
R7536:Skint6	UTSW	4	112,668,744 (GRCm39)	critical splice acceptor site	probably null
R7613:Skint6	UTSW	4	113,034,243 (GRCm39)	splice site	probably null
R7956:Skint6	UTSW	4	112,703,894 (GRCm39)	missense	possibly damaging	0.85
R8118:Skint6	UTSW	4	113,013,691 (GRCm39)	missense	possibly damaging	0.73
R8118:Skint6	UTSW	4	112,722,872 (GRCm39)	missense	possibly damaging	0.53
R8197:Skint6	UTSW	4	112,752,040 (GRCm39)	splice site	probably null
R8218:Skint6	UTSW	4	112,696,471 (GRCm39)	splice site	probably null
R8344:Skint6	UTSW	4	113,093,642 (GRCm39)	missense	probably damaging	1.00
R8518:Skint6	UTSW	4	113,095,465 (GRCm39)	missense	possibly damaging	0.58
R8776:Skint6	UTSW	4	112,661,885 (GRCm39)	missense	possibly damaging	0.96
R8776-TAIL:Skint6	UTSW	4	112,661,885 (GRCm39)	missense	possibly damaging	0.96
R8794:Skint6	UTSW	4	113,049,869 (GRCm39)	missense	possibly damaging	0.73
R8796:Skint6	UTSW	4	112,661,891 (GRCm39)	missense	possibly damaging	0.86
R8812:Skint6	UTSW	4	112,846,149 (GRCm39)	missense	probably benign	0.00
R8866:Skint6	UTSW	4	112,711,650 (GRCm39)	missense	probably benign
R8881:Skint6	UTSW	4	112,672,716 (GRCm39)	missense	possibly damaging	0.53
R8949:Skint6	UTSW	4	112,931,296 (GRCm39)	missense	probably benign	0.04
R8967:Skint6	UTSW	4	112,729,701 (GRCm39)	nonsense	probably null
R9005:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9007:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9053:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9055:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9144:Skint6	UTSW	4	112,985,102 (GRCm39)	missense	possibly damaging	0.73
R9149:Skint6	UTSW	4	113,034,173 (GRCm39)	missense	probably damaging	0.98
R9297:Skint6	UTSW	4	112,668,717 (GRCm39)	missense	probably benign	0.00
R9388:Skint6	UTSW	4	113,049,838 (GRCm39)	missense	possibly damaging	0.85
R9407:Skint6	UTSW	4	113,034,224 (GRCm39)	missense	possibly damaging	0.53
R9475:Skint6	UTSW	4	112,664,037 (GRCm39)	critical splice donor site	probably null
R9515:Skint6	UTSW	4	112,715,375 (GRCm39)	missense	probably benign
R9572:Skint6	UTSW	4	112,985,128 (GRCm39)	missense	probably benign
R9689:Skint6	UTSW	4	113,093,546 (GRCm39)	missense	probably damaging	0.99
R9744:Skint6	UTSW	4	112,666,360 (GRCm39)	missense	probably damaging	1.00
R9785:Skint6	UTSW	4	112,740,884 (GRCm39)	missense	possibly damaging	0.86
Z1176:Skint6	UTSW	4	113,095,491 (GRCm39)	missense	probably damaging	0.96
Z1176:Skint6	UTSW	4	112,749,211 (GRCm39)	missense	possibly damaging	0.53
Z1176:Skint6	UTSW	4	113,095,492 (GRCm39)	missense	possibly damaging	0.83
Z1177:Skint6	UTSW	4	112,963,158 (GRCm39)	critical splice acceptor site	probably null
Z1177:Skint6	UTSW	4	112,664,125 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AATCGAGCACATATGTCAATGCCAT -3'
(R):5'- TGGGACAAAGAACATAGGTCCAA -3'

Sequencing Primer
(F):5'- CACATATGTCAATGCCATTTACTTTG -3'
(R):5'- CCTCACAGTGAAAAATGCAAGTTG -3'

Posted On

2019-05-13