Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01885:Shisa7'

179108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shisa7

Ensembl Gene

ENSMUSG00000053550

Gene Name

shisa family member 7

Synonyms

D430041B17Rik, CKAMP59

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01885

Quality Score

Status

Chromosome

Chromosomal Location

4828551-4847695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4833825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 323 (H323Q)

Ref Sequence

ENSEMBL: ENSMUSP00000064886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066041] [ENSMUST00000117452] [ENSMUST00000119433]

AlphaFold

Q8C3Q5

Predicted Effect

probably damaging
Transcript: ENSMUST00000066041
AA Change: H323Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064886
Gene: ENSMUSG00000053550
AA Change: H323Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	32	61	N/A	INTRINSIC
Pfam:Shisa	82	156	1.7e-24	PFAM
low complexity region	449	462	N/A	INTRINSIC
low complexity region	466	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117452
AA Change: H140Q

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112405
Gene: ENSMUSG00000053550
AA Change: H140Q

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	266	279	N/A	INTRINSIC
low complexity region	283	323	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119433
AA Change: H306Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112423
Gene: ENSMUSG00000053550
AA Change: H306Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	32	61	N/A	INTRINSIC
Pfam:Shisa	81	150	5.8e-21	PFAM
low complexity region	432	445	N/A	INTRINSIC
low complexity region	449	489	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157068

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout results in impaired expression of contextual fear memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,774,575 (GRCm39)	V568A	possibly damaging	Het
Abcb11	T	A	2: 69,117,971 (GRCm39)	Q469L	probably damaging	Het
Ahsg	G	A	16: 22,717,731 (GRCm39)	G264E	probably damaging	Het
Ankar	T	C	1: 72,697,862 (GRCm39)	Y788C	probably damaging	Het
Birc6	T	A	17: 74,911,511 (GRCm39)	F1508I	possibly damaging	Het
Cd6	C	A	19: 10,776,601 (GRCm39)	Q141H	probably benign	Het
Cercam	A	C	2: 29,771,015 (GRCm39)	T471P	probably damaging	Het
Cux1	T	C	5: 136,337,301 (GRCm39)	D729G	possibly damaging	Het
Dglucy	T	A	12: 100,816,540 (GRCm39)	F394Y	probably damaging	Het
E130308A19Rik	A	G	4: 59,720,004 (GRCm39)	N512S	probably benign	Het
Ephb4	T	C	5: 137,356,059 (GRCm39)	C223R	probably damaging	Het
Gcn1	T	A	5: 115,714,174 (GRCm39)		probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hirip3	T	A	7: 126,463,381 (GRCm39)	S446T	probably benign	Het
Hoxa5	A	T	6: 52,179,647 (GRCm39)	F243I	probably damaging	Het
Iars1	T	C	13: 49,844,975 (GRCm39)	V162A	probably benign	Het
Lama2	G	A	10: 26,981,135 (GRCm39)	R1840*	probably null	Het
Lbp	T	A	2: 158,166,493 (GRCm39)	L349Q	probably damaging	Het
Lrp4	T	C	2: 91,331,452 (GRCm39)	I1604T	probably benign	Het
Mapk10	T	C	5: 103,144,455 (GRCm39)	K121E	probably damaging	Het
Nav3	T	A	10: 109,578,521 (GRCm39)	R1579*	probably null	Het
Obscn	T	C	11: 58,965,794 (GRCm39)	D652G	possibly damaging	Het
Or10x1	A	G	1: 174,196,967 (GRCm39)	I161M	probably damaging	Het
Or5b117	G	A	19: 13,431,449 (GRCm39)	T144I	probably benign	Het
Or7g30	A	G	9: 19,352,760 (GRCm39)	I184V	probably benign	Het
Ostm1	C	T	10: 42,574,147 (GRCm39)	S280L	possibly damaging	Het
Peak1	C	T	9: 56,167,388 (GRCm39)	R180K	probably damaging	Het
Plcz1	T	C	6: 139,947,837 (GRCm39)	Y515C	probably benign	Het
Postn	T	C	3: 54,283,455 (GRCm39)		probably benign	Het
Ptchd4	C	T	17: 42,814,493 (GRCm39)	T798I	probably damaging	Het
Rnf41	A	T	10: 128,271,344 (GRCm39)	N85Y	probably damaging	Het
Slco2a1	T	A	9: 102,951,629 (GRCm39)	M386K	probably damaging	Het
St18	G	A	1: 6,914,596 (GRCm39)		probably null	Het
Stra6	T	A	9: 58,048,431 (GRCm39)	L175M	probably damaging	Het
Tmem67	A	G	4: 12,057,389 (GRCm39)	L600P	probably damaging	Het
Try5	G	T	6: 41,288,672 (GRCm39)	N182K	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo7	G	A	14: 70,903,475 (GRCm39)	T1078I	probably benign	Het
Zan	G	A	5: 137,462,386 (GRCm39)	T931I	unknown	Het

Other mutations in Shisa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0680:Shisa7	UTSW	7	4,834,722 (GRCm39)	missense	probably benign	0.00
R2656:Shisa7	UTSW	7	4,832,818 (GRCm39)	missense	possibly damaging	0.66
R3912:Shisa7	UTSW	7	4,833,239 (GRCm39)	nonsense	probably null
R4752:Shisa7	UTSW	7	4,837,249 (GRCm39)	missense	possibly damaging	0.73
R5411:Shisa7	UTSW	7	4,832,975 (GRCm39)	missense	probably damaging	1.00
R7358:Shisa7	UTSW	7	4,832,920 (GRCm39)	missense	probably benign	0.25
R8445:Shisa7	UTSW	7	4,839,352 (GRCm39)	missense	probably benign	0.01
R9177:Shisa7	UTSW	7	4,837,333 (GRCm39)	missense	probably damaging	0.98
R9268:Shisa7	UTSW	7	4,837,333 (GRCm39)	missense	probably damaging	0.98
Z1176:Shisa7	UTSW	7	4,839,260 (GRCm39)	missense	probably damaging	0.98
Z1177:Shisa7	UTSW	7	4,839,617 (GRCm39)	missense	unknown

Posted On

2014-05-07