Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01981:Shisa9'

183472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shisa9

Ensembl Gene

ENSMUSG00000022494

Gene Name

shisa family member 9

Synonyms

2700045P11Rik, CKAMP44

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL01981

Quality Score

Status

Chromosome

Chromosomal Location

11801977-12088766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12062522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 248 (M248L)

Ref Sequence

ENSEMBL: ENSMUSP00000132646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023138] [ENSMUST00000170672]

AlphaFold

Q9CZN4

Predicted Effect

probably benign
Transcript: ENSMUST00000023138
AA Change: M248L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: M248L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	28	61	N/A	INTRINSIC
Pfam:Shisa	70	254	7.9e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170672
AA Change: M248L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: M248L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	28	61	N/A	INTRINSIC
Pfam:Shisa	71	260	2.1e-55	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced AMPA-mediated synaptic currents in retinogeniculate and corticogeniculate synapses, enhanced paired-pulse facilitation in retinogeniculate synapses and decreased synaptic depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	C	7: 27,337,499 (GRCm39)	D417A	probably benign	Het
Ap1b1	T	A	11: 4,969,336 (GRCm39)	S231T	possibly damaging	Het
Arhgap31	G	A	16: 38,421,935 (GRCm39)	T1377I	probably damaging	Het
Cdkl3	A	G	11: 51,895,896 (GRCm39)	T48A	probably benign	Het
Chd3	T	C	11: 69,251,501 (GRCm39)	Y510C	probably damaging	Het
Chml	A	G	1: 175,515,751 (GRCm39)	S57P	probably damaging	Het
Cpxm1	G	T	2: 130,236,060 (GRCm39)	C367*	probably null	Het
D930020B18Rik	A	G	10: 121,528,319 (GRCm39)	T428A	probably damaging	Het
Dnaja3	A	T	16: 4,519,033 (GRCm39)	I325F	probably damaging	Het
Efcab3	A	T	11: 104,612,258 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,407,519 (GRCm39)	V943A	probably benign	Het
Fam110b	A	G	4: 5,799,481 (GRCm39)	I300V	probably benign	Het
Fam193a	A	G	5: 34,588,537 (GRCm39)	E76G	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Furin	A	G	7: 80,042,647 (GRCm39)	L380P	probably damaging	Het
Fxr2	A	C	11: 69,541,328 (GRCm39)	I354L	possibly damaging	Het
Garnl3	G	T	2: 32,887,741 (GRCm39)	N756K	probably damaging	Het
Gimap1	A	G	6: 48,720,258 (GRCm39)	Y290C	probably damaging	Het
Gm5592	G	A	7: 40,935,795 (GRCm39)	W99*	probably null	Het
Hexd	G	T	11: 121,107,819 (GRCm39)	S183I	possibly damaging	Het
Hmg20a	C	T	9: 56,384,514 (GRCm39)	P95S	probably damaging	Het
Jhy	A	T	9: 40,806,842 (GRCm39)	I769N	probably damaging	Het
Lrrd1	G	T	5: 3,901,267 (GRCm39)	C524F	probably damaging	Het
Musk	C	A	4: 58,296,629 (GRCm39)	S76R	probably damaging	Het
Myom3	C	T	4: 135,513,160 (GRCm39)	R613*	probably null	Het
Naa16	T	A	14: 79,618,956 (GRCm39)	E172D	probably benign	Het
Obox6	A	T	7: 15,568,846 (GRCm39)	M10K	possibly damaging	Het
Or5al5	A	T	2: 85,961,174 (GRCm39)	Y278N	probably benign	Het
Pam	C	T	1: 97,762,166 (GRCm39)	V700M	probably damaging	Het
Phf8-ps	C	T	17: 33,286,628 (GRCm39)	G58E	probably damaging	Het
Pkd1l2	C	A	8: 117,743,655 (GRCm39)	R1978L	probably benign	Het
Pkhd1	T	A	1: 20,593,791 (GRCm39)	T1441S	possibly damaging	Het
Plg	A	G	17: 12,621,934 (GRCm39)		probably benign	Het
Pot1a	A	G	6: 25,750,099 (GRCm39)	L521P	probably damaging	Het
Pramel14	G	A	4: 143,720,924 (GRCm39)	P6S	probably damaging	Het
Ptprj	A	T	2: 90,270,256 (GRCm39)	V1280E	probably damaging	Het
Rcbtb2	T	C	14: 73,402,222 (GRCm39)	S136P	possibly damaging	Het
Rtl1	C	T	12: 109,558,369 (GRCm39)	E1157K	possibly damaging	Het
Sell	G	A	1: 163,893,195 (GRCm39)	R137Q	probably benign	Het
Spag17	A	G	3: 99,966,149 (GRCm39)	E1144G	probably benign	Het
Sphk2	G	T	7: 45,360,157 (GRCm39)	Q616K	probably benign	Het
Tecrl	T	C	5: 83,442,453 (GRCm39)	T207A	probably benign	Het
Ubr5	T	C	15: 37,996,842 (GRCm39)	T1885A	probably benign	Het
Usp24	T	C	4: 106,232,965 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,927,350 (GRCm39)	M622T	probably benign	Het
Vangl1	A	G	3: 102,091,607 (GRCm39)	F160L	probably damaging	Het
Vps13d	T	C	4: 144,813,317 (GRCm39)	S3289G	probably damaging	Het
Wdfy4	A	G	14: 32,855,673 (GRCm39)	F647S	probably damaging	Het
Wdhd1	A	G	14: 47,498,907 (GRCm39)	L509P	probably damaging	Het
Zcchc2	A	G	1: 105,955,229 (GRCm39)	E640G	probably damaging	Het
Zfp563	T	A	17: 33,324,383 (GRCm39)	I326N	probably benign	Het

Other mutations in Shisa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02011:Shisa9	APN	16	12,062,502 (GRCm39)	missense	possibly damaging	0.87
IGL02884:Shisa9	APN	16	11,814,907 (GRCm39)	splice site	probably benign
PIT4508001:Shisa9	UTSW	16	12,085,344 (GRCm39)	missense	probably benign	0.00
R0194:Shisa9	UTSW	16	11,802,818 (GRCm39)	missense	probably damaging	1.00
R0309:Shisa9	UTSW	16	11,814,987 (GRCm39)	missense	probably damaging	1.00
R0588:Shisa9	UTSW	16	12,085,638 (GRCm39)	missense	probably damaging	0.99
R1469:Shisa9	UTSW	16	11,802,935 (GRCm39)	missense	probably damaging	1.00
R1469:Shisa9	UTSW	16	11,802,935 (GRCm39)	missense	probably damaging	1.00
R1781:Shisa9	UTSW	16	12,085,521 (GRCm39)	missense	probably benign	0.00
R1818:Shisa9	UTSW	16	12,085,426 (GRCm39)	missense	probably damaging	0.96
R1943:Shisa9	UTSW	16	12,085,620 (GRCm39)	missense	probably benign	0.06
R2263:Shisa9	UTSW	16	11,802,631 (GRCm39)	missense	possibly damaging	0.53
R3742:Shisa9	UTSW	16	12,085,528 (GRCm39)	missense	probably damaging	1.00
R5068:Shisa9	UTSW	16	12,085,412 (GRCm39)	missense	possibly damaging	0.48
R5977:Shisa9	UTSW	16	12,085,292 (GRCm39)	missense	probably benign	0.01
R6032:Shisa9	UTSW	16	11,802,772 (GRCm39)	missense	possibly damaging	0.76
R6032:Shisa9	UTSW	16	11,802,772 (GRCm39)	missense	possibly damaging	0.76
R6487:Shisa9	UTSW	16	12,062,475 (GRCm39)	missense	probably benign	0.01
R6773:Shisa9	UTSW	16	11,802,892 (GRCm39)	missense	probably damaging	1.00
R8341:Shisa9	UTSW	16	11,815,015 (GRCm39)	missense	possibly damaging	0.60
R9035:Shisa9	UTSW	16	11,802,902 (GRCm39)	missense	probably damaging	1.00
R9390:Shisa9	UTSW	16	12,085,408 (GRCm39)	missense	possibly damaging	0.73
R9454:Shisa9	UTSW	16	11,802,523 (GRCm39)	missense	probably benign	0.00
R9658:Shisa9	UTSW	16	12,062,520 (GRCm39)	missense	possibly damaging	0.95
R9665:Shisa9	UTSW	16	12,085,446 (GRCm39)	missense	probably benign

Posted On

2014-05-07