Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Shisa8'

176648

Institutional Source

Beutler Lab

Gene Symbol

Shisa8

Ensembl Gene

ENSMUSG00000096883

Gene Name

shisa family member 8

Synonyms

AI848285, Orf26

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82206168-82212815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82208555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 189 (P189L)

Ref Sequence

ENSEMBL: ENSMUSP00000137002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000179269] [ENSMUST00000229336] [ENSMUST00000229543]

AlphaFold

J3QNX5

Predicted Effect

probably benign
Transcript: ENSMUST00000023100

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	94	104	N/A	INTRINSIC
low complexity region	118	137	N/A	INTRINSIC
low complexity region	178	204	N/A	INTRINSIC
low complexity region	210	235	N/A	INTRINSIC
HLH	325	375	3.54e-15	SMART
low complexity region	383	394	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	570	586	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179269
AA Change: P189L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137002
Gene: ENSMUSG00000096883
AA Change: P189L

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Pfam:Shisa	55	189	1.7e-33	PFAM
low complexity region	234	246	N/A	INTRINSIC
low complexity region	255	268	N/A	INTRINSIC
low complexity region	310	328	N/A	INTRINSIC
low complexity region	349	360	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229336

Predicted Effect

probably damaging
Transcript: ENSMUST00000229543
AA Change: P45L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000230955

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fcho2	T	C	13: 98,726,198	D757G	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nabp1	T	C	1: 51,473,003		probably null	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shkbp1	A	G	7: 27,354,779	V89A	probably benign	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Stag3	T	A	5: 138,298,639		probably null	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500	H628R	probably damaging	Het
Zfp810	T	C	9: 22,278,920	I231V	probably benign	Het

Other mutations in Shisa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1522:Shisa8	UTSW	15	82208501	missense	probably damaging	0.98
R4520:Shisa8	UTSW	15	82211962	missense	possibly damaging	0.84
R4524:Shisa8	UTSW	15	82211962	missense	possibly damaging	0.84
R6844:Shisa8	UTSW	15	82212109	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCACGGGCAGCCACTCATTT -3'
(R):5'- GGACATAGCGGTTAAGAATACTAGCAGC -3'

Sequencing Primer
(F):5'- ATGAAATGTAGCTGTTCCACTCTC -3'
(R):5'- tggagatggggagagtcaag -3'

Posted On

2014-04-24