Mutagenetix > Incidental Mutation

Incidental Mutation 'R8449:Shisa6'

654673

Institutional Source

Beutler Lab

Gene Symbol

Shisa6

Ensembl Gene

ENSMUSG00000053930

Gene Name

shisa family member 6

Synonyms

Gm879, CKAMP52, LOC380702

MMRRC Submission

067829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66102551-66416790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 66416556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 79 (Q79E)

Ref Sequence

ENSEMBL: ENSMUSP00000071025 (fasta)

Gene Model

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

AlphaFold

Q3UH99

Predicted Effect

probably benign
Transcript: ENSMUST00000066679
AA Change: Q79E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: Q79E

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

SMART Domains

Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: Q22E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	A	G	11: 105,885,768 (GRCm39)	E58G	probably damaging	Het
Ank1	T	A	8: 23,629,302 (GRCm39)	F4I	possibly damaging	Het
Arih2	T	C	9: 108,488,872 (GRCm39)	D282G	possibly damaging	Het
Atp7b	C	T	8: 22,503,556 (GRCm39)	V733I	probably damaging	Het
Avil	A	G	10: 126,845,861 (GRCm39)	D370G	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdkl3	A	G	11: 51,975,260 (GRCm39)	H74R		Het
Clec9a	C	A	6: 129,387,292 (GRCm39)	A49E	probably damaging	Het
Cntn5	A	G	9: 9,666,840 (GRCm39)		probably null	Het
Cyp11b2	A	G	15: 74,723,428 (GRCm39)	M412T	possibly damaging	Het
Dhrs7l	T	C	12: 72,659,340 (GRCm39)	N145D	probably damaging	Het
Dync1i1	A	G	6: 5,966,815 (GRCm39)	Q399R	possibly damaging	Het
Fam47e	C	A	5: 92,702,990 (GRCm39)	R21S	probably benign	Het
Gimap4	A	G	6: 48,667,694 (GRCm39)	I150V	probably damaging	Het
Gm7361	T	A	5: 26,465,387 (GRCm39)	M128K	possibly damaging	Het
Gtf3c3	C	T	1: 54,468,068 (GRCm39)	E190K	probably damaging	Het
Hells	T	C	19: 38,940,286 (GRCm39)	S396P	probably damaging	Het
Hrg	T	A	16: 22,780,286 (GRCm39)	S521R	unknown	Het
Itih5	A	G	2: 10,191,800 (GRCm39)	T112A	probably benign	Het
Ly9	T	A	1: 171,421,586 (GRCm39)	N555I	probably damaging	Het
Morc2b	C	T	17: 33,355,775 (GRCm39)	E666K	probably benign	Het
Mup8	C	A	4: 60,222,382 (GRCm39)	V30L	probably benign	Het
Nebl	T	A	2: 17,418,593 (GRCm39)	E268D	probably damaging	Het
Nr4a3	G	T	4: 48,052,170 (GRCm39)	R308L	probably benign	Het
Or10k2	A	T	8: 84,268,301 (GRCm39)	H176L	probably damaging	Het
Or14j1	A	G	17: 38,146,561 (GRCm39)	R224G	probably damaging	Het
Or4c10	A	T	2: 89,760,878 (GRCm39)	I242L	possibly damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Or8k33	T	G	2: 86,383,980 (GRCm39)	I163L	probably benign	Het
Plcd3	A	G	11: 102,965,496 (GRCm39)	Y530H	probably damaging	Het
Pou2af1	A	T	9: 51,144,326 (GRCm39)	E80V	probably damaging	Het
Scgb2b18	C	T	7: 32,872,656 (GRCm39)	D50N	probably benign	Het
Sis	C	T	3: 72,810,984 (GRCm39)	G1679D	probably damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Ston2	T	C	12: 91,608,649 (GRCm39)	D817G	probably damaging	Het
Ticrr	T	A	7: 79,344,428 (GRCm39)	F1431Y	probably benign	Het
Uevld	T	A	7: 46,595,055 (GRCm39)	N179I	probably damaging	Het
Utp6	G	T	11: 79,836,610 (GRCm39)	Q375K	probably benign	Het
Vmn2r68	T	A	7: 84,882,785 (GRCm39)	E322D	probably damaging	Het
Wnt5a	A	G	14: 28,235,108 (GRCm39)	M51V	probably benign	Het
Zfp202	A	T	9: 40,118,976 (GRCm39)	R130*	probably null	Het
Zfp949	G	T	9: 88,449,302 (GRCm39)	V36L	possibly 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
R3962:Shisa6	UTSW	11	66,108,302 (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
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'- CGCTTCTTGCAGCAGAAGC -3'
(R):5'- TCCCCAGGGGTTCTCCAC -3'

Sequencing Primer
(F):5'- GCGATAGTAGCAGGTGCC -3'
(R):5'- CTGTCGCTGCTGCTGTCG -3'

Posted On

2020-10-20