Mutagenetix > Incidental Mutation

Incidental Mutation 'R6773:Shisa9'

532261

Institutional Source

Beutler Lab

Gene Symbol

Shisa9

Ensembl Gene

ENSMUSG00000022494

Gene Name

shisa family member 9

Synonyms

2700045P11Rik, CKAMP44

MMRRC Submission

044889-MU

Accession Numbers

Essential gene?

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

Stock #

R6773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11801977-12088766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11802892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 150 (T150A)

Ref Sequence

ENSEMBL: ENSMUSP00000132646 (fasta)

Gene Model

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

AlphaFold

Q9CZN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023138
AA Change: T150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: T150A

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 damaging
Transcript: ENSMUST00000170672
AA Change: T150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: T150A

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

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	T	A	3: 92,336,556 (GRCm39)	I49F	probably damaging	Het
Aqp6	A	G	15: 99,500,558 (GRCm39)	D161G	probably damaging	Het
Aqr	A	T	2: 113,979,477 (GRCm39)	N319K	possibly damaging	Het
Asns	C	A	6: 7,676,284 (GRCm39)	R424L	probably benign	Het
Atp4a	T	C	7: 30,414,802 (GRCm39)	V197A	probably damaging	Het
Ccdc70	A	G	8: 22,463,321 (GRCm39)	E37G	probably damaging	Het
Ccdc88b	A	T	19: 6,826,409 (GRCm39)	V1102E	possibly damaging	Het
Cd82	G	A	2: 93,252,221 (GRCm39)	A130V	probably benign	Het
Cfap46	T	C	7: 139,222,477 (GRCm39)		probably benign	Het
Cnot6l	A	C	5: 96,242,158 (GRCm39)	C188W	probably damaging	Het
Cxcr6	A	T	9: 123,639,355 (GRCm39)	T119S	possibly damaging	Het
Dok7	G	A	5: 35,234,528 (GRCm39)	R193H	probably damaging	Het
Dpy19l1	A	T	9: 24,352,068 (GRCm39)	S386T	probably damaging	Het
Frem3	A	C	8: 81,338,444 (GRCm39)	T246P	probably damaging	Het
Gm29666	A	T	15: 84,798,360 (GRCm39)	I67K	unknown	Het
Gpr153	T	A	4: 152,363,757 (GRCm39)	V59E	probably damaging	Het
Inpp4b	G	A	8: 82,583,249 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,482 (GRCm39)	I247V	possibly damaging	Het
Klri1	C	T	6: 129,680,510 (GRCm39)	V91M	possibly damaging	Het
M1ap	T	A	6: 82,945,061 (GRCm39)	D118E	probably damaging	Het
Map4	T	C	9: 109,863,993 (GRCm39)	V406A	probably benign	Het
Nedd4l	T	C	18: 65,300,622 (GRCm39)	V369A	probably benign	Het
Or5ac24	A	T	16: 59,165,579 (GRCm39)	L162I	probably damaging	Het
Otud4	A	G	8: 80,370,435 (GRCm39)	Y71C	possibly damaging	Het
Plcl1	A	G	1: 55,790,461 (GRCm39)	N1044D	probably benign	Het
Ppp4r3b	T	A	11: 29,155,639 (GRCm39)	M114K	probably benign	Het
Prune1	T	C	3: 95,171,082 (GRCm39)	D114G	probably damaging	Het
Rad54l2	A	T	9: 106,570,516 (GRCm39)	V1268D	probably benign	Het
Rbbp6	A	G	7: 122,598,578 (GRCm39)		probably benign	Het
Rimbp3	A	T	16: 17,026,879 (GRCm39)	E101V	probably damaging	Het
Rit1	C	T	3: 88,633,676 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Smpdl3a	T	C	10: 57,678,533 (GRCm39)	V112A	probably damaging	Het
Strada	T	A	11: 106,055,733 (GRCm39)	I305F	probably damaging	Het
Svep1	C	T	4: 58,049,146 (GRCm39)	E3454K	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tmem259	T	C	10: 79,813,422 (GRCm39)	D519G	possibly damaging	Het
Tns1	T	C	1: 73,958,866 (GRCm39)	Q445R	probably damaging	Het
Topbp1	A	G	9: 103,220,891 (GRCm39)	D20G	possibly damaging	Het
Trbv5	G	T	6: 41,039,551 (GRCm39)	W52L	probably damaging	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Tulp1	T	C	17: 28,581,876 (GRCm39)	K193E	probably damaging	Het
Unc80	T	C	1: 66,690,702 (GRCm39)	V2459A	probably benign	Het
Vps50	T	C	6: 3,592,560 (GRCm39)	V731A	probably benign	Het

Other mutations in Shisa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Shisa9	APN	16	12,062,522 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- TCGGGCGACTTCATCTTCTG -3'
(R):5'- ATTCCCCAATCGGAGACCTTG -3'

Sequencing Primer
(F):5'- CATCTTCTGCTGCGGGAC -3'
(R):5'- CACGGCTGGGGAATGTTG -3'

Posted On

2018-08-29