Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01620:Shisa6'

92517

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 #

IGL01620

Quality Score

Status

Chromosome

Chromosomal Location

66102551-66416790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66108705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 391 (M391L)

Ref Sequence

ENSEMBL: ENSMUSP00000071025 (fasta)

Gene Model

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

AlphaFold

Q3UH99

Predicted Effect

probably benign
Transcript: ENSMUST00000066679
AA Change: M391L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: M391L

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: M366L

SMART Domains

Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: M366L

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,385 (GRCm39)	V277D	probably damaging	Het
Akap9	T	A	5: 4,010,218 (GRCm39)	V325D	probably benign	Het
Ambra1	A	G	2: 91,741,757 (GRCm39)		probably null	Het
Ano9	A	G	7: 140,690,352 (GRCm39)	L94P	probably damaging	Het
Atad3a	G	T	4: 155,830,535 (GRCm39)	T521K	probably damaging	Het
Bckdk	A	G	7: 127,504,948 (GRCm39)	K126E	possibly damaging	Het
Bdp1	A	T	13: 100,220,713 (GRCm39)		probably benign	Het
Btbd17	T	C	11: 114,686,599 (GRCm39)	T26A	probably benign	Het
Cadps2	G	A	6: 23,587,461 (GRCm39)	S314L	probably benign	Het
Ccl8	A	T	11: 82,007,435 (GRCm39)	Q90L	probably damaging	Het
Chit1	T	C	1: 134,078,257 (GRCm39)	V355A	probably damaging	Het
Col17a1	A	G	19: 47,656,978 (GRCm39)	I555T	possibly damaging	Het
Dmwd	T	A	7: 18,815,159 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,758,144 (GRCm39)	I483T	probably damaging	Het
Eloc	T	A	1: 16,713,502 (GRCm39)		probably benign	Het
Emc7	T	A	2: 112,295,119 (GRCm39)	L177H	probably damaging	Het
Emsy	T	A	7: 98,275,831 (GRCm39)	K352I	probably damaging	Het
Ermn	T	C	2: 57,942,502 (GRCm39)	E76G	probably benign	Het
Flot1	A	T	17: 36,140,763 (GRCm39)	E203V	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,529 (GRCm39)	K266R	probably benign	Het
Iqck	A	T	7: 118,476,901 (GRCm39)	K154M	probably damaging	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Kash5	T	C	7: 44,839,384 (GRCm39)	D359G	probably damaging	Het
Kif13a	T	C	13: 47,018,296 (GRCm39)	K53R	probably benign	Het
Klhl2	A	T	8: 65,232,772 (GRCm39)	H168Q	probably damaging	Het
Lpcat2b	T	C	5: 107,581,759 (GRCm39)	Y363H	probably damaging	Het
Lrp6	A	T	6: 134,488,225 (GRCm39)	N290K	probably damaging	Het
Map2k3	T	C	11: 60,840,873 (GRCm39)	F301L	possibly damaging	Het
Mns1	A	G	9: 72,364,195 (GRCm39)		probably benign	Het
Nos1	A	G	5: 118,043,374 (GRCm39)		probably null	Het
Or1j17	T	A	2: 36,578,550 (GRCm39)	C179S	probably damaging	Het
Or52h7	T	A	7: 104,214,220 (GRCm39)	V264D	probably damaging	Het
Pask	A	T	1: 93,237,844 (GRCm39)	H1374Q	possibly damaging	Het
Pik3r1	G	A	13: 101,822,728 (GRCm39)	A658V	probably damaging	Het
Ppp2r2a	A	T	14: 67,307,726 (GRCm39)	F14I	probably damaging	Het
Ptprc	C	T	1: 137,996,148 (GRCm39)	E904K	possibly damaging	Het
Rab11fip4	G	T	11: 79,582,705 (GRCm39)	D591Y	possibly damaging	Het
Rab3gap2	A	G	1: 184,936,523 (GRCm39)	T29A	probably benign	Het
Rgs19	A	G	2: 181,331,381 (GRCm39)	V84A	possibly damaging	Het
Sipa1l1	G	A	12: 82,469,263 (GRCm39)	G1254D	probably damaging	Het
Slfn8	A	T	11: 82,895,059 (GRCm39)	Y358*	probably null	Het
Taf3	G	T	2: 9,957,472 (GRCm39)	R232S	probably benign	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Trav13n-4	T	C	14: 53,601,473 (GRCm39)	S81P	probably damaging	Het
Trim30d	G	T	7: 104,121,333 (GRCm39)	P321T	possibly damaging	Het
Tyrp1	G	T	4: 80,763,039 (GRCm39)	G309*	probably null	Het
Vps13d	C	A	4: 144,821,437 (GRCm39)	G2979V	possibly damaging	Het

Other mutations in Shisa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Shisa6	APN	11	66,108,654 (GRCm39)	missense	possibly damaging	0.94
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

2013-12-09