Mutagenetix > Incidental Mutation

Incidental Mutation 'R9658:Shisa9'

735570

Institutional Source

Beutler Lab

Gene Symbol

Shisa9

Ensembl Gene

ENSMUSG00000022494

Gene Name

shisa family member 9

Synonyms

2700045P11Rik, CKAMP44

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11801977-12088766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12062520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 247 (Q247L)

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: Q247L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: Q247L

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

possibly damaging
Transcript: ENSMUST00000170672
AA Change: Q247L

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: Q247L

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: 99.4%
20x: 98.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,600,401 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,325,634 (GRCm39)	I1521M	probably damaging	Het
Abcc3	A	G	11: 94,263,703 (GRCm39)	S268P	possibly damaging	Het
Adamts20	G	C	15: 94,249,626 (GRCm39)	P464A	probably damaging	Het
Apoa1	C	A	9: 46,141,280 (GRCm39)	D125E	probably benign	Het
Atp6v0a1	C	A	11: 100,909,414 (GRCm39)	Q48K	probably benign	Het
Bptf	T	C	11: 107,002,170 (GRCm39)	N314S	probably damaging	Het
Cdh20	T	C	1: 109,988,785 (GRCm39)	V229A	probably damaging	Het
Cfap46	G	A	7: 139,246,229 (GRCm39)	T378M		Het
Clca3b	T	A	3: 144,543,575 (GRCm39)	D418V	probably damaging	Het
Dennd4c	T	A	4: 86,754,625 (GRCm39)	L1545*	probably null	Het
Dnajc13	A	G	9: 104,115,728 (GRCm39)	V27A	probably benign	Het
Efcab3	A	G	11: 104,611,120 (GRCm39)	K321E	probably benign	Het
Eif2ak2	A	T	17: 79,183,632 (GRCm39)	D72E	probably benign	Het
Eif2ak4	T	C	2: 118,269,511 (GRCm39)	I862T	probably damaging	Het
Eif4g1	T	C	16: 20,502,863 (GRCm39)	I1022T	probably benign	Het
Enpp3	A	T	10: 24,649,802 (GRCm39)	*875R	probably null	Het
F11	T	C	8: 45,698,671 (GRCm39)	Y491C	probably damaging	Het
Fam98c	A	C	7: 28,852,206 (GRCm39)	W118G	probably damaging	Het
Fbxo43	A	T	15: 36,152,282 (GRCm39)	L509Q	probably damaging	Het
Fbxw5	A	G	2: 25,393,870 (GRCm39)	H366R	probably damaging	Het
Flt1	G	T	5: 147,525,377 (GRCm39)	N920K	probably damaging	Het
Git1	T	A	11: 77,390,581 (GRCm39)	F106I	probably damaging	Het
Glipr1l2	A	G	10: 111,942,868 (GRCm39)	E241G	probably damaging	Het
Gm2381	A	C	7: 42,469,729 (GRCm39)	C132G	probably damaging	Het
Gm49383	A	G	12: 69,239,628 (GRCm39)	I237T		Het
Gm7324	T	A	14: 43,952,282 (GRCm39)	D308E	probably benign	Het
Gpr17	A	G	18: 32,080,421 (GRCm39)	L214P	probably damaging	Het
Gtf3c1	A	T	7: 125,306,734 (GRCm39)	L39Q	probably damaging	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hcar2	T	C	5: 124,002,532 (GRCm39)	T324A	possibly damaging	Het
Ksr2	T	C	5: 117,885,425 (GRCm39)	S750P	probably damaging	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Map4k3	C	A	17: 80,961,306 (GRCm39)	M133I	probably benign	Het
Marf1	A	T	16: 13,958,087 (GRCm39)	L805Q	probably damaging	Het
Mccc2	T	A	13: 100,090,754 (GRCm39)	R460W	probably damaging	Het
Mgam	A	G	6: 40,721,311 (GRCm39)	D312G	possibly damaging	Het
Nadk2	A	T	15: 9,103,449 (GRCm39)	K360*	probably null	Het
Nalf1	T	C	8: 9,820,114 (GRCm39)	D302G	probably benign	Het
Nars2	A	G	7: 96,689,178 (GRCm39)	I367V	probably benign	Het
Nppb	T	C	4: 148,070,951 (GRCm39)	S109P	possibly damaging	Het
Odf2	G	A	2: 29,779,813 (GRCm39)	R15Q	probably benign	Het
Or4f59	C	A	2: 111,872,823 (GRCm39)	A185S	probably damaging	Het
Or51l4	C	T	7: 103,404,028 (GRCm39)	V255M	probably damaging	Het
Or5ac25	A	T	16: 59,182,106 (GRCm39)	H158Q	probably damaging	Het
Osbpl1a	A	T	18: 12,889,269 (GRCm39)	I949N	probably benign	Het
Pan3	T	C	5: 147,479,881 (GRCm39)	F55L	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Pdxk	T	C	10: 78,287,403 (GRCm39)	K53E	probably benign	Het
Pja2	A	G	17: 64,599,868 (GRCm39)	S539P	probably damaging	Het
Plscr1	T	A	9: 92,148,535 (GRCm39)	C158*	probably null	Het
Prdm14	T	C	1: 13,189,145 (GRCm39)	T400A	probably benign	Het
Rag1	C	T	2: 101,473,229 (GRCm39)	V638M	possibly damaging	Het
Ros1	A	G	10: 51,967,069 (GRCm39)	S1734P	probably damaging	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc27a4	G	A	2: 29,701,301 (GRCm39)	R364Q	probably damaging	Het
Spag17	C	T	3: 99,934,932 (GRCm39)	P713S	possibly damaging	Het
Tbc1d4	T	A	14: 101,845,856 (GRCm39)	H14L	probably damaging	Het
Tmem144	T	A	3: 79,729,991 (GRCm39)	Y253F	probably damaging	Het
Tmem204	C	T	17: 25,299,322 (GRCm39)	G66R	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,942,424 (GRCm39)	V453E	probably damaging	Het
Tns1	G	C	1: 73,981,182 (GRCm39)	Q1061E	probably benign	Het
Tns1	G	T	1: 73,981,183 (GRCm39)	N1060K	probably benign	Het
Trav5-1	A	G	14: 52,860,428 (GRCm39)	K78E	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Uvssa	T	C	5: 33,568,333 (GRCm39)	C574R	probably damaging	Het
Veph1	G	A	3: 66,171,434 (GRCm39)	Q3*	probably null	Het
Vps13b	T	A	15: 35,623,774 (GRCm39)	D1230E	probably benign	Het
Xkr9	T	A	1: 13,771,318 (GRCm39)	I278N	probably damaging	Het
Zbed4	C	A	15: 88,664,742 (GRCm39)	A270E	probably benign	Het
Zfp366	A	T	13: 99,365,435 (GRCm39)	T199S	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
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
R9665:Shisa9	UTSW	16	12,085,446 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGATGCACAAGGCCCTG -3'
(R):5'- ACTTCATAGGGAAAGGCTGAAT -3'

Sequencing Primer
(F):5'- GGGAACTTGACACATTATCGTTC -3'
(R):5'- CTTCATAGGGAAAGGCTGAATAAAGG -3'

Posted On

2022-11-14