Mutagenetix > Incidental Mutation

Incidental Mutation 'R3962:Shisa6'

312138

Institutional Source

Beutler Lab

Gene Symbol

Shisa6

Ensembl Gene

ENSMUSG00000053930

Gene Name

shisa family member 6

Synonyms

Gm879, CKAMP52, LOC380702

MMRRC Submission

040837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3962 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66102551-66416790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66108302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 525 (V525A)

Ref Sequence

ENSEMBL: ENSMUSP00000071025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066679]

AlphaFold

Q3UH99

Predicted Effect

probably damaging
Transcript: ENSMUST00000066679
AA Change: V525A

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

SMART Domains

Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: V525A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	42	59	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
Pfam:Shisa	97	294	6.3e-43	PFAM
low complexity region	378	389	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123454
AA Change: V500A

SMART Domains

Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: V500A

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
Pfam:Shisa	41	227	2.4e-43	PFAM
low complexity region	354	365	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144922

Meta Mutation Damage Score

0.1545

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abca12	A	T	1: 71,313,674 (GRCm39)		probably null	Het
Ablim2	C	T	5: 35,969,519 (GRCm39)	R211C	probably damaging	Het
Actn4	C	A	7: 28,597,647 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,587,798 (GRCm39)	S6G	probably benign	Het
Bod1l	T	G	5: 41,966,064 (GRCm39)	E2667A	probably benign	Het
Ccdc13	G	A	9: 121,628,005 (GRCm39)		probably benign	Het
Ccdc15	G	T	9: 37,231,782 (GRCm39)	R181S	probably damaging	Het
Ccnd1	G	A	7: 144,487,787 (GRCm39)	T230M	probably damaging	Het
Cdcp1	T	C	9: 123,011,446 (GRCm39)	T344A	possibly damaging	Het
Fam161a	T	C	11: 22,973,507 (GRCm39)	M275T	possibly damaging	Het
Fbxo15	A	G	18: 84,977,372 (GRCm39)	T95A	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Galk2	A	T	2: 125,735,293 (GRCm39)	N107I	probably benign	Het
Glmn	A	T	5: 107,708,911 (GRCm39)		probably benign	Het
Gm5082	T	C	13: 41,809,894 (GRCm39)		noncoding transcript	Het
Gm5828	C	T	1: 16,838,868 (GRCm39)		noncoding transcript	Het
Haus6	C	T	4: 86,530,041 (GRCm39)	A4T	possibly damaging	Het
Hmgcs2	G	A	3: 98,198,354 (GRCm39)	V86M	possibly damaging	Het
Hrg	G	A	16: 22,774,825 (GRCm39)	V152I	possibly damaging	Het
Itga2	A	T	13: 114,976,054 (GRCm39)	V1106E	probably damaging	Het
Itga9	G	A	9: 118,457,254 (GRCm39)	D122N	possibly damaging	Het
Kif21a	T	A	15: 90,869,612 (GRCm39)	E413V	probably damaging	Het
Klk1	A	G	7: 43,878,973 (GRCm39)	T256A	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Larp4	C	A	15: 99,910,026 (GRCm39)	Q652K	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Moxd2	T	A	6: 40,862,331 (GRCm39)	M163L	probably benign	Het
Myo15a	G	A	11: 60,370,654 (GRCm39)	R1138H	probably benign	Het
Oasl2	A	G	5: 115,035,808 (GRCm39)	D28G	probably benign	Het
Or6c207	A	T	10: 129,104,535 (GRCm39)	I219N	probably damaging	Het
Platr26	A	T	2: 71,549,849 (GRCm39)		noncoding transcript	Het
Ptdss1	A	G	13: 67,142,075 (GRCm39)	H411R	probably benign	Het
Ptpra	A	G	2: 30,325,672 (GRCm39)	T147A	probably damaging	Het
Rfx2	T	C	17: 57,092,302 (GRCm39)	Y307C	probably damaging	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Slc4a3	A	G	1: 75,533,398 (GRCm39)	S1007G	probably damaging	Het
Spmip5	A	G	19: 58,777,541 (GRCm39)	Y82H	probably damaging	Het
Srsf3	C	T	17: 29,255,430 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,953,054 (GRCm39)	I219M	probably damaging	Het
Tars2	A	G	3: 95,662,068 (GRCm39)		probably null	Het
Tfap2d	A	G	1: 19,189,189 (GRCm39)	N245S	probably damaging	Het
Tlr6	T	A	5: 65,112,328 (GRCm39)	H193L	probably benign	Het
Tomm20l	T	C	12: 71,164,352 (GRCm39)	V78A	probably benign	Het
Tsc2	G	A	17: 24,840,140 (GRCm39)		probably benign	Het
Usp2	A	G	9: 43,986,954 (GRCm39)	D84G	possibly damaging	Het
V1ra8	A	G	6: 90,180,466 (GRCm39)	N223S	probably benign	Het
Wnk2	C	A	13: 49,224,453 (GRCm39)	R1122L	probably damaging	Het

Other mutations in Shisa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Shisa6	APN	11	66,108,654 (GRCm39)	missense	possibly damaging	0.94
IGL01620:Shisa6	APN	11	66,108,705 (GRCm39)	missense	probably benign	0.03
IGL02702:Shisa6	APN	11	66,110,788 (GRCm39)	missense	probably damaging	1.00
IGL02810:Shisa6	APN	11	66,115,774 (GRCm39)	missense	possibly damaging	0.64
IGL03029:Shisa6	APN	11	66,108,839 (GRCm39)	missense	probably damaging	1.00
R0363:Shisa6	UTSW	11	66,416,153 (GRCm39)	missense	probably benign	0.17
R1220:Shisa6	UTSW	11	66,110,836 (GRCm39)	missense	probably damaging	1.00
R1264:Shisa6	UTSW	11	66,265,975 (GRCm39)	splice site	probably benign
R2495:Shisa6	UTSW	11	66,108,459 (GRCm39)	missense	probably damaging	1.00
R4449:Shisa6	UTSW	11	66,416,244 (GRCm39)	missense	probably benign	0.18
R5872:Shisa6	UTSW	11	66,108,800 (GRCm39)	missense	probably damaging	1.00
R6059:Shisa6	UTSW	11	66,115,800 (GRCm39)	missense	probably damaging	0.98
R6172:Shisa6	UTSW	11	66,108,832 (GRCm39)	missense	probably benign	0.28
R6849:Shisa6	UTSW	11	66,416,327 (GRCm39)	missense	probably benign	0.01
R6903:Shisa6	UTSW	11	66,265,982 (GRCm39)	splice site	probably null
R7282:Shisa6	UTSW	11	66,393,480 (GRCm39)	missense	possibly damaging	0.94
R7450:Shisa6	UTSW	11	66,108,832 (GRCm39)	missense	probably benign	0.28
R7985:Shisa6	UTSW	11	66,265,990 (GRCm39)	missense
R8449:Shisa6	UTSW	11	66,416,556 (GRCm39)	missense	probably benign	0.01
R9129:Shisa6	UTSW	11	66,110,853 (GRCm39)	missense	probably benign	0.37
RF008:Shisa6	UTSW	11	66,416,749 (GRCm39)	unclassified	probably benign
Z1176:Shisa6	UTSW	11	66,266,053 (GRCm39)	missense
Z1187:Shisa6	UTSW	11	66,416,533 (GRCm39)	small insertion	probably benign
Z1187:Shisa6	UTSW	11	66,416,524 (GRCm39)	small insertion	probably benign
Z1188:Shisa6	UTSW	11	66,416,519 (GRCm39)	small insertion	probably benign
Z1190:Shisa6	UTSW	11	66,416,535 (GRCm39)	small insertion	probably benign
Z1190:Shisa6	UTSW	11	66,416,519 (GRCm39)	small insertion	probably benign
Z1191:Shisa6	UTSW	11	66,416,517 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGAGCTTTAAAGAGCCTAGGTCC -3'
(R):5'- GCATGACCAAGATGCACTCC -3'

Sequencing Primer
(F):5'- AAAGAGCCTAGGTCCGTGCTTG -3'
(R):5'- GATGCACTCCCATCCCAGTG -3'

Posted On

2015-04-29