Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Shisa7'

702681

Institutional Source

Beutler Lab

Gene Symbol

Shisa7

Ensembl Gene

ENSMUSG00000053550

Gene Name

shisa family member 7

Synonyms

D430041B17Rik, CKAMP59

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4828551-4847695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4837333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 244 (D244A)

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: D244A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064886
Gene: ENSMUSG00000053550
AA Change: D244A

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 damaging
Transcript: ENSMUST00000117452
AA Change: D61A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112405
Gene: ENSMUSG00000053550
AA Change: D61A

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: D244A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112423
Gene: ENSMUSG00000053550
AA Change: D244A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,969,030 (GRCm39)	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Adnp	A	G	2: 168,031,233 (GRCm39)	I26T	possibly damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,181,719 (GRCm39)	D265V	probably benign	Het
Asb15	G	A	6: 24,566,298 (GRCm39)	R417H	probably benign	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Bace1	G	T	9: 45,767,282 (GRCm39)		probably benign	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Ces1b	A	C	8: 93,798,583 (GRCm39)	V201G	probably damaging	Het
Clk1	A	G	1: 58,458,882 (GRCm39)	L133S	unknown	Het
Clstn3	G	A	6: 124,433,880 (GRCm39)	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,207,781 (GRCm39)		probably benign	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,702,643 (GRCm39)	V58D	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Enam	A	G	5: 88,640,778 (GRCm39)	M147V	probably benign	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
F13a1	C	T	13: 37,076,910 (GRCm39)	G593D	probably benign	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fat4	C	T	3: 38,942,396 (GRCm39)	R430C	probably damaging	Het
Fhod3	T	C	18: 24,842,832 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ift70a1	A	T	2: 75,811,279 (GRCm39)	V268E	probably benign	Het
Igkv4-72	A	T	6: 69,203,980 (GRCm39)	Y70*	probably null	Het
Kdm1b	A	C	13: 47,217,705 (GRCm39)	N388T	probably benign	Het
Klri2	A	T	6: 129,710,037 (GRCm39)	W188R	probably damaging	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,222,855 (GRCm39)	L265P	probably damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Myo3b	A	C	2: 70,257,305 (GRCm39)	*1334C	probably null	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,490,548 (GRCm39)	M393K	probably damaging	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Otogl	A	T	10: 107,616,917 (GRCm39)	C1787S	probably damaging	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Parp1	A	G	1: 180,415,509 (GRCm39)	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Rmi1	T	C	13: 58,555,853 (GRCm39)	I34T	probably damaging	Het
Rnf220	A	G	4: 117,346,833 (GRCm39)	I193T	probably benign	Het
Rpgrip1l	T	C	8: 92,007,355 (GRCm39)	T412A	probably benign	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Sptlc1	A	T	13: 53,512,872 (GRCm39)	I162N	probably damaging	Het
Ssrp1	C	A	2: 84,870,606 (GRCm39)		probably benign	Het
Sytl2	A	G	7: 90,034,359 (GRCm39)	N523S	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Thumpd3	T	A	6: 113,043,819 (GRCm39)	F411L	probably damaging	Het
Ttn	A	G	2: 76,768,079 (GRCm39)	W3007R	unknown	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,284,577 (GRCm39)	V99E	probably damaging	Het
Wdr47	T	C	3: 108,525,812 (GRCm39)	F112L	probably benign	Het
Wnk2	A	G	13: 49,235,507 (GRCm39)	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	probably damaging	Het

Other mutations in Shisa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01885:Shisa7	APN	7	4,833,825 (GRCm39)	missense	probably damaging	1.00
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
Z1176:Shisa7	UTSW	7	4,839,260 (GRCm39)	missense	probably damaging	0.98
Z1177:Shisa7	UTSW	7	4,839,617 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTCCACAGCTGATGGATGG -3'
(R):5'- ATCTCTGCACTGTGGATGC -3'

Sequencing Primer
(F):5'- CATCAGGATTGAGAGTGTCACATG -3'
(R):5'- TCTGCACTGTGGATGCCCTAAAG -3'

Posted On

2022-03-25