Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Shisa6'

90035

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shisa6

Ensembl Gene

ENSMUSG00000053930

Gene Name

shisa family member 6

Synonyms

Gm879, CKAMP52, LOC380702

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

66102551-66416790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66108654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 408 (G408C)

Ref Sequence

ENSEMBL: ENSMUSP00000071025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066679]

AlphaFold

Q3UH99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066679
AA Change: G408C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: G408C

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	42	59	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
Pfam:Shisa	97	294	6.3e-43	PFAM
low complexity region	378	389	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123454
AA Change: G383C

SMART Domains

Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: G383C

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
Pfam:Shisa	41	227	2.4e-43	PFAM
low complexity region	354	365	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144922

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly damaging	Het

Other mutations in Shisa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Shisa6	APN	11	66,108,705 (GRCm39)	missense	probably benign	0.03
IGL02702:Shisa6	APN	11	66,110,788 (GRCm39)	missense	probably damaging	1.00
IGL02810:Shisa6	APN	11	66,115,774 (GRCm39)	missense	possibly damaging	0.64
IGL03029:Shisa6	APN	11	66,108,839 (GRCm39)	missense	probably damaging	1.00
R0363:Shisa6	UTSW	11	66,416,153 (GRCm39)	missense	probably benign	0.17
R1220:Shisa6	UTSW	11	66,110,836 (GRCm39)	missense	probably damaging	1.00
R1264:Shisa6	UTSW	11	66,265,975 (GRCm39)	splice site	probably benign
R2495:Shisa6	UTSW	11	66,108,459 (GRCm39)	missense	probably damaging	1.00
R3962:Shisa6	UTSW	11	66,108,302 (GRCm39)	missense	probably damaging	1.00
R4449:Shisa6	UTSW	11	66,416,244 (GRCm39)	missense	probably benign	0.18
R5872:Shisa6	UTSW	11	66,108,800 (GRCm39)	missense	probably damaging	1.00
R6059:Shisa6	UTSW	11	66,115,800 (GRCm39)	missense	probably damaging	0.98
R6172:Shisa6	UTSW	11	66,108,832 (GRCm39)	missense	probably benign	0.28
R6849:Shisa6	UTSW	11	66,416,327 (GRCm39)	missense	probably benign	0.01
R6903:Shisa6	UTSW	11	66,265,982 (GRCm39)	splice site	probably null
R7282:Shisa6	UTSW	11	66,393,480 (GRCm39)	missense	possibly damaging	0.94
R7450:Shisa6	UTSW	11	66,108,832 (GRCm39)	missense	probably benign	0.28
R7985:Shisa6	UTSW	11	66,265,990 (GRCm39)	missense
R8449:Shisa6	UTSW	11	66,416,556 (GRCm39)	missense	probably benign	0.01
R9129:Shisa6	UTSW	11	66,110,853 (GRCm39)	missense	probably benign	0.37
RF008:Shisa6	UTSW	11	66,416,749 (GRCm39)	unclassified	probably benign
Z1176:Shisa6	UTSW	11	66,266,053 (GRCm39)	missense
Z1187:Shisa6	UTSW	11	66,416,533 (GRCm39)	small insertion	probably benign
Z1187:Shisa6	UTSW	11	66,416,524 (GRCm39)	small insertion	probably benign
Z1188:Shisa6	UTSW	11	66,416,519 (GRCm39)	small insertion	probably benign
Z1190:Shisa6	UTSW	11	66,416,535 (GRCm39)	small insertion	probably benign
Z1190:Shisa6	UTSW	11	66,416,519 (GRCm39)	small insertion	probably benign
Z1191:Shisa6	UTSW	11	66,416,517 (GRCm39)	small insertion	probably benign

Posted On

2013-12-03