Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Shisa6'

151118

Institutional Source

Beutler Lab

Gene Symbol

Shisa6

Ensembl Gene

ENSMUSG00000053930

Gene Name

shisa family member 6

Synonyms

Gm879, LOC380702

MMRRC Submission

039331-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66211725-66525964 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 66375149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3UH99

Predicted Effect

probably benign
Transcript: ENSMUST00000066679

SMART Domains

Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930

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

probably benign
Transcript: ENSMUST00000123454

SMART Domains

Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930

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: ENSMUST00000134562

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,646,377		probably benign	Het
Acadl	A	T	1: 66,857,553	C27S	probably benign	Het
Adgrb3	C	T	1: 25,559,850	G258E	probably damaging	Het
Akna	T	C	4: 63,381,725		probably null	Het
Angpt2	T	C	8: 18,741,217	N21S	probably benign	Het
Ano6	A	G	15: 95,949,566	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,642,519		probably benign	Het
Clec10a	T	A	11: 70,169,741	S103T	possibly damaging	Het
Clstn2	T	C	9: 97,457,609	R770G	probably benign	Het
Cndp2	C	A	18: 84,678,791	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,620,089	V2653A	probably benign	Het
Col4a3	A	T	1: 82,643,301		probably benign	Het
Daam1	A	G	12: 71,975,311		probably benign	Het
H2-M9	A	G	17: 36,642,592	V18A	probably benign	Het
Heatr1	T	A	13: 12,424,610		probably benign	Het
Impg1	T	C	9: 80,314,393	D715G	probably benign	Het
Incenp	T	C	19: 9,884,015	K425E	unknown	Het
Kif13b	T	C	14: 64,776,232		probably benign	Het
Msh2	T	A	17: 87,707,179		probably null	Het
Myh2	A	G	11: 67,180,778	N474D	probably damaging	Het
Myo18b	T	C	5: 112,830,319	T1246A	probably benign	Het
Nob1	T	C	8: 107,421,504	H102R	probably damaging	Het
Olfr1427	G	T	19: 12,098,834	D268E	probably benign	Het
Pard3b	A	T	1: 62,164,157	I415F	probably damaging	Het
Pfkl	T	G	10: 77,993,416	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,485,763	V447A	probably benign	Het
Poli	C	T	18: 70,517,503	V266I	probably benign	Het
Rapgef4	A	T	2: 72,031,105	K46N	possibly damaging	Het
Six3	T	A	17: 85,621,857	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,218,238	E944D	possibly damaging	Het
Sptb	A	G	12: 76,612,607	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,373,837		probably benign	Het
Trrap	A	G	5: 144,789,599		probably benign	Het
Wbp11	A	G	6: 136,814,515		probably benign	Het

Other mutations in Shisa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Shisa6	APN	11	66217828	missense	possibly damaging	0.94
IGL01620:Shisa6	APN	11	66217879	missense	probably benign	0.03
IGL02702:Shisa6	APN	11	66219962	missense	probably damaging	1.00
IGL02810:Shisa6	APN	11	66224948	missense	possibly damaging	0.64
IGL03029:Shisa6	APN	11	66218013	missense	probably damaging	1.00
R0363:Shisa6	UTSW	11	66525327	missense	probably benign	0.17
R1220:Shisa6	UTSW	11	66220010	missense	probably damaging	1.00
R2495:Shisa6	UTSW	11	66217633	missense	probably damaging	1.00
R3962:Shisa6	UTSW	11	66217476	missense	probably damaging	1.00
R4449:Shisa6	UTSW	11	66525418	missense	probably benign	0.18
R5872:Shisa6	UTSW	11	66217974	missense	probably damaging	1.00
R6059:Shisa6	UTSW	11	66224974	missense	probably damaging	0.98
R6172:Shisa6	UTSW	11	66218006	missense	probably benign	0.28
R6849:Shisa6	UTSW	11	66525501	missense	probably benign	0.01
R6903:Shisa6	UTSW	11	66375156	splice site	probably null
R7282:Shisa6	UTSW	11	66502654	missense	possibly damaging	0.94
R7450:Shisa6	UTSW	11	66218006	missense	probably benign	0.28
R7985:Shisa6	UTSW	11	66375164	missense
R8449:Shisa6	UTSW	11	66525730	missense	probably benign	0.01
R9129:Shisa6	UTSW	11	66220027	missense	probably benign	0.37
RF008:Shisa6	UTSW	11	66525923	unclassified	probably benign
Z1176:Shisa6	UTSW	11	66375227	missense
Z1187:Shisa6	UTSW	11	66525698	small insertion	probably benign
Z1187:Shisa6	UTSW	11	66525707	small insertion	probably benign
Z1188:Shisa6	UTSW	11	66525693	small insertion	probably benign
Z1190:Shisa6	UTSW	11	66525693	small insertion	probably benign
Z1190:Shisa6	UTSW	11	66525709	small insertion	probably benign
Z1191:Shisa6	UTSW	11	66525691	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGTCCCATCATGTACAGAGCAGG -3'
(R):5'- GCACACCATCATTGTTGGGCAAG -3'

Sequencing Primer
(F):5'- GAGGTCTTTTGCCTTCTAAAGTC -3'
(R):5'- CATCATTGTTGGGCAAGATGGAG -3'

Posted On

2014-01-29