Mutagenetix > Incidental Mutation

Incidental Mutation 'R6499:Skint5'

519621

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

044631-MU

Accession Numbers

Essential gene?

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

Stock #

R6499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113335088-113856700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113396552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1207 (D1207A)

Ref Sequence

ENSEMBL: ENSMUSP00000129582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000169631
AA Change: D1207A

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: D1207A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
IGv	58	139	2.48e-8	SMART
Blast:IG_like	173	249	2e-16	BLAST
internal_repeat_2	282	614	9.14e-29	PROSPERO
internal_repeat_1	284	770	2.19e-39	PROSPERO
low complexity region	772	781	N/A	INTRINSIC
internal_repeat_1	808	1294	2.19e-39	PROSPERO
internal_repeat_2	995	1306	9.14e-29	PROSPERO
transmembrane domain	1322	1341	N/A	INTRINSIC
transmembrane domain	1361	1383	N/A	INTRINSIC
transmembrane domain	1398	1420	N/A	INTRINSIC
transmembrane domain	1441	1463	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000170105
AA Change: D1207A

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: D1207A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
IGv	58	139	2.48e-8	SMART
Pfam:C2-set_2	162	238	3.9e-6	PFAM
internal_repeat_3	276	364	2.13e-10	PROSPERO
internal_repeat_2	282	593	3.81e-24	PROSPERO
internal_repeat_1	284	749	6.25e-39	PROSPERO
low complexity region	751	760	N/A	INTRINSIC
low complexity region	772	781	N/A	INTRINSIC
internal_repeat_1	808	1273	6.25e-39	PROSPERO
internal_repeat_2	995	1285	3.81e-24	PROSPERO
internal_repeat_3	1196	1287	2.13e-10	PROSPERO
transmembrane domain	1301	1320	N/A	INTRINSIC
transmembrane domain	1340	1362	N/A	INTRINSIC
transmembrane domain	1377	1399	N/A	INTRINSIC
transmembrane domain	1420	1442	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,561 (GRCm39)	T1250M	probably damaging	Het
Actn1	C	T	12: 80,215,191 (GRCm39)	A857T	possibly damaging	Het
Adam2	C	T	14: 66,296,239 (GRCm39)	V207I	probably damaging	Het
Angpt2	T	C	8: 18,744,533 (GRCm39)	T404A	probably benign	Het
Ank3	T	C	10: 69,827,574 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,930,930 (GRCm39)	Q958K	probably damaging	Het
B4galt4	T	A	16: 38,578,184 (GRCm39)	D210E	probably benign	Het
Brinp3	A	T	1: 146,777,431 (GRCm39)	H626L	possibly damaging	Het
Ccna2	T	G	3: 36,625,112 (GRCm39)	D68A	probably damaging	Het
Cd163	G	A	6: 124,281,703 (GRCm39)	G2D	probably benign	Het
Chrm5	A	T	2: 112,310,825 (GRCm39)	V97D	probably benign	Het
Dctn5	G	A	7: 121,734,320 (GRCm39)	V55I	probably benign	Het
Dnm3	A	T	1: 162,141,164 (GRCm39)	I365N	probably damaging	Het
Esyt2	A	G	12: 116,284,790 (GRCm39)	D184G	probably damaging	Het
Ifi214	C	A	1: 173,352,597 (GRCm39)	K277N	probably damaging	Het
Il11ra1	C	T	4: 41,765,412 (GRCm39)	P169L	probably benign	Het
Inhbb	C	T	1: 119,345,069 (GRCm39)	E407K	probably damaging	Het
Lama2	T	A	10: 26,907,154 (GRCm39)	T2336S	probably damaging	Het
Ldhb	A	T	6: 142,439,847 (GRCm39)	V231E	possibly damaging	Het
Lrit2	T	C	14: 36,790,767 (GRCm39)	F149L	probably damaging	Het
Malrd1	T	A	2: 15,936,500 (GRCm39)	S1575T	probably benign	Het
Naip5	A	G	13: 100,358,102 (GRCm39)	C1045R	probably benign	Het
Nefl	A	G	14: 68,322,034 (GRCm39)	E208G	probably damaging	Het
Oog4	A	C	4: 143,164,548 (GRCm39)	S328A	probably damaging	Het
Or1e1	T	A	11: 73,245,011 (GRCm39)	L144Q	probably damaging	Het
Or5p79	G	T	7: 108,221,713 (GRCm39)	M231I	probably benign	Het
Or6c216	T	C	10: 129,678,453 (GRCm39)	I153V	probably benign	Het
Or7e168	A	G	9: 19,719,847 (GRCm39)	I78V	probably benign	Het
Pbrm1	A	G	14: 30,783,466 (GRCm39)	N528D	probably damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Polq	T	C	16: 36,881,189 (GRCm39)	S839P	probably benign	Het
Psmg1	A	G	16: 95,789,297 (GRCm39)	F87L	probably damaging	Het
Ptprt	A	G	2: 161,376,507 (GRCm39)	M1298T	probably benign	Het
Rbm27	T	A	18: 42,470,076 (GRCm39)	W958R	probably damaging	Het
Stx17	T	A	4: 48,183,478 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,099 (GRCm39)	*310R	probably null	Het
Tmem130	T	A	5: 144,689,224 (GRCm39)	N139I	probably damaging	Het
Trpc1	T	C	9: 95,608,490 (GRCm39)	E267G	probably damaging	Het
Trrap	T	A	5: 144,793,812 (GRCm39)	M3398K	probably damaging	Het
Vrtn	T	G	12: 84,697,090 (GRCm39)	D613E	probably benign	Het
Vsx1	G	T	2: 150,530,441 (GRCm39)	T147K	probably benign	Het
Wdr55	T	C	18: 36,895,231 (GRCm39)	V103A	probably benign	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	Het

Other mutations in Skint5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Skint5	APN	4	113,400,070 (GRCm39)	critical splice donor site	probably null
IGL01288:Skint5	APN	4	113,381,332 (GRCm39)	intron	probably benign
IGL01313:Skint5	APN	4	113,662,361 (GRCm39)	missense	unknown
IGL01446:Skint5	APN	4	113,800,019 (GRCm39)	missense	probably damaging	1.00
IGL01861:Skint5	APN	4	113,417,021 (GRCm39)	splice site	probably benign
IGL01955:Skint5	APN	4	113,480,933 (GRCm39)	critical splice donor site	probably null
IGL02150:Skint5	APN	4	113,742,988 (GRCm39)	missense	unknown
IGL02190:Skint5	APN	4	113,797,962 (GRCm39)	missense	possibly damaging	0.93
IGL02271:Skint5	APN	4	113,794,778 (GRCm39)	splice site	probably null
IGL02426:Skint5	APN	4	113,797,981 (GRCm39)	missense	probably benign	0.08
IGL02484:Skint5	APN	4	113,799,750 (GRCm39)	nonsense	probably null
IGL02548:Skint5	APN	4	113,588,273 (GRCm39)	missense	unknown
IGL02556:Skint5	APN	4	113,797,932 (GRCm39)	missense	probably damaging	0.99
IGL02674:Skint5	APN	4	113,487,582 (GRCm39)	splice site	probably benign
IGL02697:Skint5	APN	4	113,336,910 (GRCm39)	missense	probably benign	0.23
IGL02710:Skint5	APN	4	113,335,156 (GRCm39)	missense	unknown
IGL02721:Skint5	APN	4	113,799,746 (GRCm39)	missense	probably damaging	0.96
IGL02750:Skint5	APN	4	113,396,559 (GRCm39)	missense	unknown
IGL03121:Skint5	APN	4	113,574,284 (GRCm39)	missense	unknown
IGL03167:Skint5	APN	4	113,751,047 (GRCm39)	missense	unknown
IGL03247:Skint5	APN	4	113,798,005 (GRCm39)	missense	probably damaging	1.00
IGL03264:Skint5	APN	4	113,343,854 (GRCm39)	missense	unknown
IGL03281:Skint5	APN	4	113,524,415 (GRCm39)	missense	unknown
IGL03353:Skint5	APN	4	113,599,379 (GRCm39)	missense	unknown
IGL03377:Skint5	APN	4	113,620,735 (GRCm39)	missense	unknown
PIT4377001:Skint5	UTSW	4	113,454,900 (GRCm39)	missense	unknown
R0006:Skint5	UTSW	4	113,751,059 (GRCm39)	splice site	probably benign
R0026:Skint5	UTSW	4	113,403,665 (GRCm39)	splice site	probably benign
R0096:Skint5	UTSW	4	113,454,965 (GRCm39)	splice site	probably benign
R0096:Skint5	UTSW	4	113,454,965 (GRCm39)	splice site	probably benign
R0277:Skint5	UTSW	4	113,794,818 (GRCm39)	missense	probably benign	0.04
R0323:Skint5	UTSW	4	113,794,818 (GRCm39)	missense	probably benign	0.04
R0369:Skint5	UTSW	4	113,369,220 (GRCm39)	critical splice donor site	probably null
R0375:Skint5	UTSW	4	113,562,793 (GRCm39)	missense	unknown
R0464:Skint5	UTSW	4	113,392,928 (GRCm39)	missense	unknown
R0479:Skint5	UTSW	4	113,512,869 (GRCm39)	missense	unknown
R0507:Skint5	UTSW	4	113,425,127 (GRCm39)	splice site	probably null
R0533:Skint5	UTSW	4	113,685,064 (GRCm39)	missense	unknown
R0628:Skint5	UTSW	4	113,588,266 (GRCm39)	nonsense	probably null
R0645:Skint5	UTSW	4	113,620,679 (GRCm39)	missense	unknown
R1201:Skint5	UTSW	4	113,413,342 (GRCm39)	missense	unknown
R1240:Skint5	UTSW	4	113,574,304 (GRCm39)	missense	unknown
R1270:Skint5	UTSW	4	113,799,856 (GRCm39)	nonsense	probably null
R1390:Skint5	UTSW	4	113,512,881 (GRCm39)	missense	unknown
R1398:Skint5	UTSW	4	113,636,268 (GRCm39)	missense	unknown
R1438:Skint5	UTSW	4	113,413,308 (GRCm39)	splice site	probably benign
R1591:Skint5	UTSW	4	113,856,651 (GRCm39)	critical splice donor site	probably null
R1631:Skint5	UTSW	4	113,341,123 (GRCm39)	missense	probably benign	0.23
R1653:Skint5	UTSW	4	113,347,875 (GRCm39)	missense	unknown
R1722:Skint5	UTSW	4	113,703,508 (GRCm39)	splice site	probably null
R1735:Skint5	UTSW	4	113,420,656 (GRCm39)	missense	unknown
R1765:Skint5	UTSW	4	113,434,858 (GRCm39)	missense	unknown
R2054:Skint5	UTSW	4	113,676,360 (GRCm39)	critical splice donor site	probably null
R2058:Skint5	UTSW	4	113,727,897 (GRCm39)	missense	possibly damaging	0.53
R2197:Skint5	UTSW	4	113,798,046 (GRCm39)	missense	probably damaging	1.00
R2239:Skint5	UTSW	4	113,403,733 (GRCm39)	missense	unknown
R2380:Skint5	UTSW	4	113,403,733 (GRCm39)	missense	unknown
R2406:Skint5	UTSW	4	113,799,864 (GRCm39)	missense	probably damaging	0.97
R2512:Skint5	UTSW	4	113,487,616 (GRCm39)	missense	unknown
R2913:Skint5	UTSW	4	113,381,289 (GRCm39)	intron	probably benign
R3522:Skint5	UTSW	4	113,614,102 (GRCm39)	critical splice donor site	probably null
R3779:Skint5	UTSW	4	113,636,237 (GRCm39)	splice site	probably benign
R3815:Skint5	UTSW	4	113,703,496 (GRCm39)	missense	possibly damaging	0.86
R3815:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3816:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3817:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3818:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3837:Skint5	UTSW	4	113,797,938 (GRCm39)	missense	probably damaging	1.00
R3943:Skint5	UTSW	4	113,799,950 (GRCm39)	missense	probably damaging	1.00
R3944:Skint5	UTSW	4	113,799,950 (GRCm39)	missense	probably damaging	1.00
R4037:Skint5	UTSW	4	113,743,011 (GRCm39)	missense	unknown
R4038:Skint5	UTSW	4	113,743,011 (GRCm39)	missense	unknown
R4039:Skint5	UTSW	4	113,743,011 (GRCm39)	missense	unknown
R4280:Skint5	UTSW	4	113,799,749 (GRCm39)	missense	probably damaging	1.00
R4308:Skint5	UTSW	4	113,341,164 (GRCm39)	missense	unknown
R4386:Skint5	UTSW	4	113,341,090 (GRCm39)	missense	probably benign	0.23
R4513:Skint5	UTSW	4	113,599,382 (GRCm39)	missense	unknown
R4575:Skint5	UTSW	4	113,524,390 (GRCm39)	missense	unknown
R4631:Skint5	UTSW	4	113,486,314 (GRCm39)	critical splice acceptor site	probably null
R4722:Skint5	UTSW	4	113,751,052 (GRCm39)	missense	unknown
R4854:Skint5	UTSW	4	113,437,725 (GRCm39)	missense	unknown
R5010:Skint5	UTSW	4	113,403,734 (GRCm39)	missense	unknown
R5070:Skint5	UTSW	4	113,652,735 (GRCm39)	missense	unknown
R5158:Skint5	UTSW	4	113,599,409 (GRCm39)	missense	unknown
R5163:Skint5	UTSW	4	113,652,762 (GRCm39)	missense	unknown
R5190:Skint5	UTSW	4	113,620,711 (GRCm39)	missense	unknown
R5232:Skint5	UTSW	4	113,434,841 (GRCm39)	missense	unknown
R5257:Skint5	UTSW	4	113,434,859 (GRCm39)	missense	unknown
R5499:Skint5	UTSW	4	113,799,700 (GRCm39)	critical splice donor site	probably null
R5569:Skint5	UTSW	4	113,545,903 (GRCm39)	critical splice acceptor site	probably null
R5776:Skint5	UTSW	4	113,620,700 (GRCm39)	missense	unknown
R5986:Skint5	UTSW	4	113,852,845 (GRCm39)	missense	probably benign	0.11
R5987:Skint5	UTSW	4	113,743,005 (GRCm39)	missense	unknown
R5995:Skint5	UTSW	4	113,751,029 (GRCm39)	missense	unknown
R6063:Skint5	UTSW	4	113,347,842 (GRCm39)	missense	probably benign	0.23
R6074:Skint5	UTSW	4	113,662,397 (GRCm39)	missense	unknown
R6111:Skint5	UTSW	4	113,562,845 (GRCm39)	missense	unknown
R6173:Skint5	UTSW	4	113,392,907 (GRCm39)	missense	unknown
R6238:Skint5	UTSW	4	113,800,064 (GRCm39)	splice site	probably null
R6248:Skint5	UTSW	4	113,636,286 (GRCm39)	missense	unknown
R6318:Skint5	UTSW	4	113,374,330 (GRCm39)	missense	unknown
R6370:Skint5	UTSW	4	113,471,307 (GRCm39)	missense	unknown
R6404:Skint5	UTSW	4	113,799,806 (GRCm39)	missense	probably damaging	0.97
R6646:Skint5	UTSW	4	113,797,974 (GRCm39)	missense	possibly damaging	0.94
R6737:Skint5	UTSW	4	113,392,936 (GRCm39)	missense	unknown
R6795:Skint5	UTSW	4	113,524,420 (GRCm39)	missense	unknown
R6815:Skint5	UTSW	4	113,574,324 (GRCm39)	critical splice acceptor site	probably null
R6935:Skint5	UTSW	4	113,799,793 (GRCm39)	missense	possibly damaging	0.56
R7028:Skint5	UTSW	4	113,798,036 (GRCm39)	missense	probably damaging	1.00
R7043:Skint5	UTSW	4	113,574,304 (GRCm39)	missense	unknown
R7071:Skint5	UTSW	4	113,636,277 (GRCm39)	missense	unknown
R7142:Skint5	UTSW	4	113,428,791 (GRCm39)	missense	unknown
R7197:Skint5	UTSW	4	113,437,679 (GRCm39)	critical splice donor site	probably null
R7208:Skint5	UTSW	4	113,396,536 (GRCm39)	missense	unknown
R7297:Skint5	UTSW	4	113,400,131 (GRCm39)	missense	unknown
R7470:Skint5	UTSW	4	113,743,000 (GRCm39)	missense	unknown
R7470:Skint5	UTSW	4	113,614,128 (GRCm39)	missense	unknown
R7500:Skint5	UTSW	4	113,417,035 (GRCm39)	missense	unknown
R7547:Skint5	UTSW	4	113,483,785 (GRCm39)	missense	unknown
R7556:Skint5	UTSW	4	113,425,162 (GRCm39)	missense	unknown
R7619:Skint5	UTSW	4	113,381,305 (GRCm39)	missense	unknown
R7629:Skint5	UTSW	4	113,799,857 (GRCm39)	missense	probably damaging	1.00
R7646:Skint5	UTSW	4	113,620,739 (GRCm39)	critical splice acceptor site	probably null
R7725:Skint5	UTSW	4	113,685,099 (GRCm39)	missense	unknown
R7788:Skint5	UTSW	4	113,403,715 (GRCm39)	missense	unknown
R7818:Skint5	UTSW	4	113,799,923 (GRCm39)	missense	possibly damaging	0.56
R7819:Skint5	UTSW	4	113,417,032 (GRCm39)	missense	unknown
R7958:Skint5	UTSW	4	113,480,980 (GRCm39)	missense	unknown
R8150:Skint5	UTSW	4	113,798,087 (GRCm39)	missense	probably benign	0.21
R8214:Skint5	UTSW	4	113,662,139 (GRCm39)	splice site	probably null
R8413:Skint5	UTSW	4	113,572,900 (GRCm39)	missense	unknown
R8420:Skint5	UTSW	4	113,437,679 (GRCm39)	critical splice donor site	probably null
R8459:Skint5	UTSW	4	113,703,481 (GRCm39)	nonsense	probably null
R8703:Skint5	UTSW	4	113,733,207 (GRCm39)	missense	unknown
R8710:Skint5	UTSW	4	113,483,787 (GRCm39)	missense	unknown
R8927:Skint5	UTSW	4	113,341,099 (GRCm39)	missense	probably benign	0.23
R8928:Skint5	UTSW	4	113,341,099 (GRCm39)	missense	probably benign	0.23
R8950:Skint5	UTSW	4	113,374,349 (GRCm39)	missense	unknown
R9047:Skint5	UTSW	4	113,512,919 (GRCm39)	missense	unknown
R9053:Skint5	UTSW	4	113,403,684 (GRCm39)	missense	unknown
R9216:Skint5	UTSW	4	113,392,955 (GRCm39)	missense	unknown
R9441:Skint5	UTSW	4	113,347,848 (GRCm39)	missense	unknown
R9551:Skint5	UTSW	4	113,798,052 (GRCm39)	missense	possibly damaging	0.93
R9552:Skint5	UTSW	4	113,798,052 (GRCm39)	missense	possibly damaging	0.93
R9750:Skint5	UTSW	4	113,727,866 (GRCm39)	missense	unknown
X0028:Skint5	UTSW	4	113,548,306 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTTAAATGGCCCACACTGATTTCT -3'
(R):5'- ATCAAATGGAGACCTTGCTGT -3'

Sequencing Primer
(F):5'- CTCCTGGATTAGTTTTTCTTGAAAGC -3'
(R):5'- TGCTCTTGTCAGCTCGAAAGAAC -3'

Posted On

2018-06-06