Mutagenetix > Incidental Mutation

Incidental Mutation 'R4029:Shisal2a'

313123

Institutional Source

Beutler Lab

Gene Symbol

Shisal2a

Ensembl Gene

ENSMUSG00000059816

Gene Name

shisa like 2A

Synonyms

Fam159a, OTTMUSG00000008243

MMRRC Submission

040959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R4029 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

108224974-108240546 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 108240412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 43 (C43*)

Ref Sequence

ENSEMBL: ENSMUSP00000060463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053157]

AlphaFold

A2A9G7

Predicted Effect

probably null
Transcript: ENSMUST00000053157
AA Change: C43*

SMART Domains

Protein: ENSMUSP00000060463
Gene: ENSMUSG00000059816
AA Change: C43*

Domain	Start	End	E-Value	Type
transmembrane domain	56	90	N/A	INTRINSIC
low complexity region	131	139	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,293,008 (GRCm39)	K46R	probably benign	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Atp9a	A	T	2: 168,531,245 (GRCm39)	I174N	probably damaging	Het
Bfsp1	G	A	2: 143,673,749 (GRCm39)		probably benign	Het
Cenpq	T	C	17: 41,238,140 (GRCm39)	T125A	probably damaging	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Dip2b	A	G	15: 100,084,053 (GRCm39)	Y892C	probably damaging	Het
Dmrt2	T	G	19: 25,655,498 (GRCm39)	S366A	probably damaging	Het
Exoc7	C	T	11: 116,197,814 (GRCm39)		probably benign	Het
Gabra4	G	T	5: 71,729,532 (GRCm39)	T390K	probably benign	Het
Gpr68	A	G	12: 100,845,475 (GRCm39)	L23P	probably damaging	Het
Krt17	T	A	11: 100,148,349 (GRCm39)	N364I	probably damaging	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Ly6g6d	T	A	17: 35,290,636 (GRCm39)	Q98L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nck2	T	C	1: 43,593,251 (GRCm39)	F153L	probably benign	Het
Niban1	G	A	1: 151,571,441 (GRCm39)	V239I	probably benign	Het
Nme4	T	C	17: 26,313,196 (GRCm39)		probably null	Het
Nup35	A	G	2: 80,483,318 (GRCm39)	D172G	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Phlpp1	T	A	1: 106,320,279 (GRCm39)	S1425T	probably damaging	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Pld2	A	G	11: 70,445,731 (GRCm39)	N655S	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Ston2	T	C	12: 91,615,037 (GRCm39)	Q457R	possibly damaging	Het
Syt10	T	C	15: 89,698,741 (GRCm39)	E201G	probably benign	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het

Other mutations in Shisal2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:Shisal2a	APN	4	108,225,225 (GRCm39)	missense	probably benign	0.02
IGL03247:Shisal2a	APN	4	108,225,098 (GRCm39)	missense	probably benign	0.00
R4028:Shisal2a	UTSW	4	108,240,412 (GRCm39)	nonsense	probably null
R4030:Shisal2a	UTSW	4	108,240,412 (GRCm39)	nonsense	probably null
R4890:Shisal2a	UTSW	4	108,224,998 (GRCm39)	missense	probably benign
R4911:Shisal2a	UTSW	4	108,234,658 (GRCm39)	missense	probably benign	0.11
R6190:Shisal2a	UTSW	4	108,225,052 (GRCm39)	missense	probably damaging	1.00
R6647:Shisal2a	UTSW	4	108,225,224 (GRCm39)	missense	probably benign	0.00
R7128:Shisal2a	UTSW	4	108,225,100 (GRCm39)	missense	probably benign
R8557:Shisal2a	UTSW	4	108,225,085 (GRCm39)	missense	probably benign	0.37
R9655:Shisal2a	UTSW	4	108,234,616 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- AGGGTTTGATGTGGTACAAAGC -3'
(R):5'- TTCTCAAGATCTGCGGGGTC -3'

Sequencing Primer
(F):5'- TCAGTGAGGAGTAAGGATGATTTG -3'
(R):5'- GGTCTCCGGCCGTTGTCTC -3'

Posted On

2015-04-30