Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Skint5'

253400

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

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

Stock #

R2512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113335088-113856700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113487616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 901 (I901F)

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: I901F

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: I901F

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: I901F

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: I901F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Ctr9	T	G	7: 110,646,078 (GRCm39)	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,793,715 (GRCm39)	D953E	probably benign	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or2r11	A	G	6: 42,437,207 (GRCm39)	S249P	probably damaging	Het
Or8c15	G	T	9: 38,120,670 (GRCm39)	C54F	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,461,403 (GRCm39)	S452P	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	probably damaging	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
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
R6499:Skint5	UTSW	4	113,396,552 (GRCm39)	missense	unknown
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'- ACCACCATTCATGCATACTATAGTC -3'
(R):5'- TACTTCACTGAAGCAATGCATG -3'

Sequencing Primer
(F):5'- CCTTGGATCATGAACGGCTG -3'
(R):5'- AATGCATGCTACTCTGGGCAG -3'

Posted On

2014-12-04