Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Skic3'

193448

Institutional Source

Beutler Lab

Gene Symbol

Skic3

Ensembl Gene

ENSMUSG00000033991

Gene Name

SKI3 subunit of superkiller complex

Synonyms

Ttc37

MMRRC Submission

039782-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76246853-76338435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76288720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 951 (L951Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]

AlphaFold

F8VPK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091466
AA Change: L951Q

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: L951Q

Domain	Start	End	E-Value	Type
TPR	6	39	2.92e1	SMART
TPR	40	73	1.1e-1	SMART
TPR	272	305	9.45e0	SMART
TPR	306	339	8.9e-2	SMART
SEL1	420	451	1.45e2	SMART
TPR	420	453	2.55e-2	SMART
SEL1	454	490	1.15e1	SMART
TPR	454	492	2.84e1	SMART
TPR	493	527	1.92e1	SMART
TPR	564	597	7.34e-3	SMART
TPR	598	631	1.81e-2	SMART
TPR	632	665	2.43e1	SMART
low complexity region	728	739	N/A	INTRINSIC
SEL1	861	892	3.58e1	SMART
TPR	861	894	2.14e-4	SMART
TPR	980	1013	1.56e1	SMART
Blast:TPR	1051	1084	7e-11	BLAST
Blast:TPR	1088	1121	7e-10	BLAST
TPR	1399	1432	4.31e0	SMART
low complexity region	1438	1450	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224386
AA Change: L951Q

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225341

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 130,747,859 (GRCm39)	N44K	probably benign	Het
Acd	C	A	8: 106,425,524 (GRCm39)	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042 (GRCm39)	T23I	probably benign	Het
Adam26a	T	G	8: 44,023,226 (GRCm39)	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,413,676 (GRCm39)	V589M	probably benign	Het
Agbl2	T	A	2: 90,646,720 (GRCm39)		probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,999 (GRCm39)	L170P	probably damaging	Het
Btg2	T	C	1: 134,006,769 (GRCm39)	D8G	probably benign	Het
Cacna1g	A	T	11: 94,334,118 (GRCm39)	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,469,286 (GRCm39)	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,401,843 (GRCm39)	D766V	probably damaging	Het
Carns1	A	G	19: 4,223,156 (GRCm39)	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,713,137 (GRCm39)		probably null	Het
Chrna3	T	C	9: 54,923,341 (GRCm39)	S156G	probably damaging	Het
Cmya5	A	T	13: 93,232,171 (GRCm39)	N972K	probably benign	Het
Cpne7	C	A	8: 123,861,263 (GRCm39)	P541T	probably damaging	Het
Cracd	A	G	5: 77,005,522 (GRCm39)	I628V	unknown	Het
Csmd1	A	T	8: 15,967,303 (GRCm39)	L3187I	probably damaging	Het
Dbt	A	G	3: 116,339,943 (GRCm39)	I404V	probably benign	Het
Dgki	A	T	6: 36,893,369 (GRCm39)	I819K	probably damaging	Het
Dip2b	T	A	15: 100,076,347 (GRCm39)	S782T	probably benign	Het
Dlc1	A	T	8: 37,325,244 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,098,676 (GRCm39)	V459E	probably damaging	Het
Enam	A	G	5: 88,651,086 (GRCm39)	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Extl1	A	G	4: 134,089,999 (GRCm39)	S370P	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,479,141 (GRCm39)	I370N	probably benign	Het
Fcgbp	T	A	7: 27,792,868 (GRCm39)	Y957*	probably null	Het
Gkap1	C	A	13: 58,384,857 (GRCm39)	E77*	probably null	Het
Gkn1	A	T	6: 87,326,105 (GRCm39)	N28K	unknown	Het
Gls2	A	G	10: 128,037,194 (GRCm39)	E245G	probably damaging	Het
Glyat	G	A	19: 12,623,679 (GRCm39)	V32I	probably benign	Het
Gm2431	A	T	7: 141,811,762 (GRCm39)	C47*	probably null	Het
Gm5431	T	C	11: 48,785,658 (GRCm39)	D239G	probably benign	Het
Ift70a1	C	T	2: 75,810,599 (GRCm39)	V495I	probably benign	Het
Inpp5d	T	C	1: 87,626,803 (GRCm39)	F540L	probably damaging	Het
Kcna1	A	C	6: 126,619,771 (GRCm39)	I183S	probably benign	Het
Kpna2	G	T	11: 106,882,271 (GRCm39)	L212I	probably damaging	Het
Krt36	C	G	11: 99,994,884 (GRCm39)	R229S	probably benign	Het
Krt78	G	A	15: 101,854,812 (GRCm39)	H1000Y	probably benign	Het
Krt90	A	G	15: 101,461,800 (GRCm39)		probably benign	Het
Ldlrad4	C	A	18: 68,239,758 (GRCm39)	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601 (GRCm38)	N2D	probably benign	Het
Madd	T	C	2: 90,998,236 (GRCm39)	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 25,133,433 (GRCm39)	G332S	probably null	Het
Mastl	A	T	2: 23,036,093 (GRCm39)	L141*	probably null	Het
Mdh1b	T	C	1: 63,758,681 (GRCm39)	N304D	probably benign	Het
Mfsd4b3-ps	G	T	10: 39,823,929 (GRCm39)	N110K	probably benign	Het
Mtus2	T	C	5: 148,214,443 (GRCm39)	S1035P	probably damaging	Het
Muc21	T	A	17: 35,931,940 (GRCm39)		probably benign	Het
Myh11	T	C	16: 14,033,654 (GRCm39)	E1080G	probably damaging	Het
Myh11	T	A	16: 14,018,622 (GRCm39)	D1908V	probably damaging	Het
Mypn	A	C	10: 62,971,976 (GRCm39)	M688R	probably benign	Het
Nat8l	G	T	5: 34,158,130 (GRCm39)	C180F	probably damaging	Het
Nip7	T	A	8: 107,784,018 (GRCm39)	L86Q	probably damaging	Het
Nisch	C	T	14: 30,896,839 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,114,601 (GRCm39)	I283V	probably benign	Het
Oas1h	T	A	5: 121,009,840 (GRCm39)		probably null	Het
Or10ag56	T	C	2: 87,139,196 (GRCm39)	V41A	probably benign	Het
Or2g25	A	C	17: 37,970,564 (GRCm39)	I220S	probably damaging	Het
Or4c101	C	A	2: 88,390,402 (GRCm39)	D185E	possibly damaging	Het
Or4c104	T	C	2: 88,586,117 (GRCm39)	R301G	probably benign	Het
Or56b1b	A	T	7: 108,164,564 (GRCm39)	L146*	probably null	Het
Or5w17	T	A	2: 87,583,530 (GRCm39)	D269V	probably damaging	Het
Or8b42	T	A	9: 38,341,986 (GRCm39)	M136K	probably damaging	Het
P4hb	A	G	11: 120,453,546 (GRCm39)	V373A	probably damaging	Het
Pappa2	C	A	1: 158,590,720 (GRCm39)	E1645*	probably null	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb17	C	T	18: 37,618,764 (GRCm39)	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,620,070 (GRCm39)	H620R	possibly damaging	Het
Pdcl3	T	A	1: 39,034,946 (GRCm39)	F168I	probably damaging	Het
Pde4a	T	A	9: 21,114,528 (GRCm39)	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,950 (GRCm39)	V940A	probably damaging	Het
Picalm	T	A	7: 89,840,390 (GRCm39)	S399T	possibly damaging	Het
Pigk	A	T	3: 152,450,101 (GRCm39)	I249F	probably damaging	Het
Plxnb1	C	A	9: 108,940,836 (GRCm39)	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,635,359 (GRCm39)	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,363,560 (GRCm39)	S114F	probably damaging	Het
Rassf4	A	G	6: 116,617,228 (GRCm39)	M259T	probably damaging	Het
Rbm47	T	C	5: 66,176,653 (GRCm39)	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,115,236 (GRCm39)	K21R	probably damaging	Het
Selenoi	T	C	5: 30,462,771 (GRCm39)	F212S	probably benign	Het
Shc3	T	G	13: 51,603,328 (GRCm39)	Y259S	probably damaging	Het
Slc11a2	T	C	15: 100,299,168 (GRCm39)	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,028,717 (GRCm39)	M368K	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,876,509 (GRCm39)	Q342L	probably benign	Het
Spink13	T	A	18: 62,740,820 (GRCm39)	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,551,958 (GRCm39)	I203N	possibly damaging	Het
Syne2	T	A	12: 76,099,579 (GRCm39)	C5335S	probably damaging	Het
Tagap	T	A	17: 8,148,742 (GRCm39)	D173E	probably benign	Het
Tekt3	A	C	11: 62,960,867 (GRCm39)	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,435,321 (GRCm39)	N42K	probably damaging	Het
Tnc	A	G	4: 63,890,972 (GRCm39)	W1728R	probably damaging	Het
Ttc33	C	T	15: 5,241,579 (GRCm39)	R135*	probably null	Het
Unc5c	A	G	3: 141,533,278 (GRCm39)	D842G	possibly damaging	Het
Usp43	A	T	11: 67,770,779 (GRCm39)	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 9,786,915 (GRCm39)	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,315,632 (GRCm39)	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 41,695,251 (GRCm39)	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,213,166 (GRCm39)	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,070,935 (GRCm39)	N93K	probably damaging	Het
Wdr95	A	G	5: 149,505,351 (GRCm39)		probably null	Het
Xpot	A	T	10: 121,438,932 (GRCm39)		probably null	Het
Xrcc5	C	T	1: 72,364,246 (GRCm39)	Q233*	probably null	Het
Zbtb18	T	A	1: 177,275,077 (GRCm39)	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,639,598 (GRCm39)	G298*	probably null	Het
Zfp963	A	G	8: 70,196,100 (GRCm39)	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,353,393 (GRCm39)	Q336L	probably benign	Het

Other mutations in Skic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Skic3	APN	13	76,291,397 (GRCm39)	critical splice donor site	probably null
IGL00650:Skic3	APN	13	76,275,626 (GRCm39)	missense	possibly damaging	0.89
IGL00838:Skic3	APN	13	76,282,910 (GRCm39)	missense	probably damaging	0.99
IGL00958:Skic3	APN	13	76,270,864 (GRCm39)	missense	probably damaging	0.98
IGL01011:Skic3	APN	13	76,270,784 (GRCm39)	missense	probably damaging	0.97
IGL01062:Skic3	APN	13	76,303,581 (GRCm39)	nonsense	probably null
IGL01319:Skic3	APN	13	76,277,498 (GRCm39)	missense	probably benign	0.29
IGL01697:Skic3	APN	13	76,276,852 (GRCm39)	missense	probably benign	0.01
IGL02061:Skic3	APN	13	76,277,660 (GRCm39)	critical splice donor site	probably null
IGL02184:Skic3	APN	13	76,259,810 (GRCm39)	missense	probably damaging	1.00
IGL02309:Skic3	APN	13	76,275,166 (GRCm39)	missense	possibly damaging	0.90
IGL03230:Skic3	APN	13	76,303,766 (GRCm39)	splice site	probably benign
IGL03354:Skic3	APN	13	76,330,941 (GRCm39)	missense	possibly damaging	0.71
caviar	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
gourmet	UTSW	13	76,298,638 (GRCm39)	missense	probably damaging	1.00
tartare	UTSW	13	76,333,298 (GRCm39)	missense	probably damaging	0.96
R0501:Skic3	UTSW	13	76,295,925 (GRCm39)	missense	probably benign
R0628:Skic3	UTSW	13	76,298,848 (GRCm39)	missense	possibly damaging	0.89
R0711:Skic3	UTSW	13	76,331,010 (GRCm39)	missense	probably damaging	1.00
R0928:Skic3	UTSW	13	76,261,711 (GRCm39)	missense	probably damaging	1.00
R1402:Skic3	UTSW	13	76,279,533 (GRCm39)	missense	probably damaging	1.00
R1402:Skic3	UTSW	13	76,279,533 (GRCm39)	missense	probably damaging	1.00
R1524:Skic3	UTSW	13	76,286,491 (GRCm39)	missense	probably benign	0.01
R1628:Skic3	UTSW	13	76,259,910 (GRCm39)	missense	possibly damaging	0.75
R1702:Skic3	UTSW	13	76,270,862 (GRCm39)	missense	possibly damaging	0.66
R1822:Skic3	UTSW	13	76,278,407 (GRCm39)	missense	probably benign	0.35
R1885:Skic3	UTSW	13	76,278,354 (GRCm39)	missense	probably benign	0.11
R1885:Skic3	UTSW	13	76,261,166 (GRCm39)	missense	probably benign	0.00
R1923:Skic3	UTSW	13	76,282,889 (GRCm39)	missense	probably damaging	1.00
R1978:Skic3	UTSW	13	76,282,934 (GRCm39)	missense	probably benign	0.00
R2040:Skic3	UTSW	13	76,328,222 (GRCm39)	missense	probably damaging	1.00
R2136:Skic3	UTSW	13	76,321,473 (GRCm39)	missense	possibly damaging	0.87
R2268:Skic3	UTSW	13	76,260,393 (GRCm39)	unclassified	probably benign
R2483:Skic3	UTSW	13	76,330,986 (GRCm39)	missense	probably damaging	1.00
R2988:Skic3	UTSW	13	76,303,808 (GRCm39)	missense	probably benign	0.11
R3701:Skic3	UTSW	13	76,261,798 (GRCm39)	missense	probably benign
R3951:Skic3	UTSW	13	76,278,338 (GRCm39)	missense	probably damaging	1.00
R4405:Skic3	UTSW	13	76,303,784 (GRCm39)	missense	probably damaging	0.97
R4411:Skic3	UTSW	13	76,275,623 (GRCm39)	missense	possibly damaging	0.89
R4957:Skic3	UTSW	13	76,333,232 (GRCm39)	splice site	probably null
R4960:Skic3	UTSW	13	76,333,275 (GRCm39)	missense	possibly damaging	0.95
R4993:Skic3	UTSW	13	76,331,055 (GRCm39)	missense	probably damaging	0.96
R5206:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5208:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5302:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5305:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5306:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5579:Skic3	UTSW	13	76,333,319 (GRCm39)	missense	probably damaging	1.00
R5618:Skic3	UTSW	13	76,321,545 (GRCm39)	missense	probably benign
R5726:Skic3	UTSW	13	76,266,466 (GRCm39)	missense	probably damaging	1.00
R5813:Skic3	UTSW	13	76,303,852 (GRCm39)	missense	probably benign	0.05
R5899:Skic3	UTSW	13	76,259,938 (GRCm39)	splice site	probably null
R6146:Skic3	UTSW	13	76,333,359 (GRCm39)	missense	probably damaging	1.00
R6224:Skic3	UTSW	13	76,266,410 (GRCm39)	missense	probably benign	0.02
R6286:Skic3	UTSW	13	76,291,359 (GRCm39)	missense	probably damaging	1.00
R6402:Skic3	UTSW	13	76,283,389 (GRCm39)	missense	probably benign	0.05
R6561:Skic3	UTSW	13	76,298,638 (GRCm39)	missense	probably damaging	1.00
R6808:Skic3	UTSW	13	76,333,298 (GRCm39)	missense	probably damaging	0.96
R7054:Skic3	UTSW	13	76,283,079 (GRCm39)	missense	probably damaging	1.00
R7261:Skic3	UTSW	13	76,261,698 (GRCm39)	missense	probably benign	0.30
R7267:Skic3	UTSW	13	76,328,196 (GRCm39)	missense	probably benign	0.15
R7348:Skic3	UTSW	13	76,331,003 (GRCm39)	missense	possibly damaging	0.82
R7384:Skic3	UTSW	13	76,298,854 (GRCm39)	missense	possibly damaging	0.53
R7404:Skic3	UTSW	13	76,296,866 (GRCm39)	nonsense	probably null
R7421:Skic3	UTSW	13	76,296,944 (GRCm39)	missense	probably benign	0.12
R7546:Skic3	UTSW	13	76,282,954 (GRCm39)	missense	probably damaging	1.00
R7771:Skic3	UTSW	13	76,283,149 (GRCm39)	missense	probably benign	0.21
R7960:Skic3	UTSW	13	76,260,318 (GRCm39)	missense	probably benign	0.03
R8125:Skic3	UTSW	13	76,278,446 (GRCm39)	critical splice donor site	probably null
R8136:Skic3	UTSW	13	76,261,222 (GRCm39)	missense	probably benign	0.00
R8680:Skic3	UTSW	13	76,303,587 (GRCm39)	missense	probably benign	0.01
R8697:Skic3	UTSW	13	76,328,274 (GRCm39)	missense	probably damaging	1.00
R8867:Skic3	UTSW	13	76,279,428 (GRCm39)	missense	probably damaging	0.99
R8872:Skic3	UTSW	13	76,333,326 (GRCm39)	missense	probably damaging	1.00
R8876:Skic3	UTSW	13	76,323,403 (GRCm39)	missense	probably benign	0.12
R8912:Skic3	UTSW	13	76,305,361 (GRCm39)	splice site	probably benign
R9174:Skic3	UTSW	13	76,295,893 (GRCm39)	missense	probably benign	0.00
R9334:Skic3	UTSW	13	76,281,076 (GRCm39)	missense	possibly damaging	0.65
R9389:Skic3	UTSW	13	76,275,158 (GRCm39)	missense	probably benign	0.02
R9422:Skic3	UTSW	13	76,278,447 (GRCm39)	splice site	probably benign
R9443:Skic3	UTSW	13	76,266,288 (GRCm39)	missense	probably benign	0.01
R9545:Skic3	UTSW	13	76,259,832 (GRCm39)	missense	probably damaging	1.00
R9596:Skic3	UTSW	13	76,330,968 (GRCm39)	missense	possibly damaging	0.64
X0067:Skic3	UTSW	13	76,281,052 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGAAAATCAGCCCATCTGGCAAGC -3'
(R):5'- AAATGTCTGGTGCCCACACTGAG -3'

Sequencing Primer
(F):5'- TTCCTCAGGTTTAGAGAAGCG -3'
(R):5'- gcccaCACTGAGGACGAG -3'

Posted On

2014-05-23