Mutagenetix > Incidental Mutation

Incidental Mutation 'R4673:Shisa2'

348641

Institutional Source

Beutler Lab

Gene Symbol

Shisa2

Ensembl Gene

ENSMUSG00000044461

Gene Name

shisa family member 2

Synonyms

Tmem46, 9430059P22Rik, MAd2, shisa, mShisa

MMRRC Submission

041928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R4673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59862757-59869109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59867629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 294 (T294A)

Ref Sequence

ENSEMBL: ENSMUSP00000059391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053949]

AlphaFold

Q8QZV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053949
AA Change: T294A

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

SMART Domains

Protein: ENSMUSP00000059391
Gene: ENSMUSG00000044461
AA Change: T294A

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Shisa	35	224	6e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224155

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null alle exhibit dwarfism, delayed growth and postnatal lethality with abnormal hypothalamus morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 25,374,471 (GRCm39)	E507G	probably damaging	Het
Adam39	C	T	8: 41,277,768 (GRCm39)	T53I	probably benign	Het
Adam4	A	T	12: 81,468,535 (GRCm39)	S29T	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Alas1	G	T	9: 106,113,676 (GRCm39)	P523Q	probably damaging	Het
Aldh3a1	A	G	11: 61,104,320 (GRCm39)	D69G	probably benign	Het
Arhgap29	T	A	3: 121,808,620 (GRCm39)	V1266E	probably damaging	Het
Bcdin3d	T	C	15: 99,368,719 (GRCm39)	D160G	probably damaging	Het
Btaf1	T	A	19: 36,955,772 (GRCm39)	F569I	probably benign	Het
Cacna1b	A	G	2: 24,521,956 (GRCm39)	L1718S	probably damaging	Het
Casd1	A	G	6: 4,629,975 (GRCm39)	Y457C	probably damaging	Het
Creb3	T	C	4: 43,563,192 (GRCm39)	V97A	probably benign	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Fhip1a	A	T	3: 85,638,020 (GRCm39)	V93D	probably damaging	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gm11565	A	G	11: 99,806,040 (GRCm39)	D144G	probably benign	Het
Gpn3	A	G	5: 122,511,981 (GRCm39)	Y19C	probably damaging	Het
Gstz1	A	T	12: 87,208,837 (GRCm39)	T148S	probably benign	Het
Gtf3c5	A	G	2: 28,462,236 (GRCm39)	I282T	probably benign	Het
Hspa2	T	A	12: 76,452,514 (GRCm39)	S403T	possibly damaging	Het
Il27	G	A	7: 126,190,251 (GRCm39)	T121I	possibly damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Kctd1	T	A	18: 15,196,284 (GRCm39)		probably benign	Het
Kynu	A	G	2: 43,569,815 (GRCm39)	T366A	probably damaging	Het
Lama5	G	A	2: 179,841,059 (GRCm39)	T507I	probably damaging	Het
Myh11	C	T	16: 14,087,105 (GRCm39)	V124M	probably damaging	Het
Myh14	T	A	7: 44,273,754 (GRCm39)	H1331L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myh4	T	C	11: 67,137,227 (GRCm39)	F483L	probably benign	Het
Nbeal1	A	C	1: 60,368,549 (GRCm39)	K2631N	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Ogg1	T	C	6: 113,304,268 (GRCm39)	C28R	probably damaging	Het
Or13c7c	T	C	4: 43,836,430 (GRCm39)	H20R	probably benign	Het
Or5b24	G	A	19: 12,912,461 (GRCm39)	A120T	probably damaging	Het
Or5k17	C	T	16: 58,746,053 (GRCm39)	V294I	possibly damaging	Het
Or6e1	C	T	14: 54,519,789 (GRCm39)	A188T	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phf14	A	G	6: 11,992,056 (GRCm39)	H744R	probably damaging	Het
Pibf1	A	G	14: 99,370,787 (GRCm39)	N263S	possibly damaging	Het
Plcb4	A	G	2: 135,774,191 (GRCm39)	T158A	possibly damaging	Het
Plce1	T	C	19: 38,737,840 (GRCm39)	S1615P	possibly damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rgs22	T	A	15: 36,100,079 (GRCm39)	Y212F	probably benign	Het
Rnd3	G	A	2: 51,022,553 (GRCm39)	A163V	probably benign	Het
Rnf10	A	T	5: 115,389,148 (GRCm39)	V315E	probably damaging	Het
Robo2	C	T	16: 73,701,266 (GRCm39)		probably null	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Scaf8	T	A	17: 3,248,260 (GRCm39)	D1194E	probably benign	Het
Septin12	T	C	16: 4,809,807 (GRCm39)	T198A	probably damaging	Het
Spta1	A	G	1: 174,018,628 (GRCm39)		probably null	Het
Strbp	A	T	2: 37,535,691 (GRCm39)	S6T	probably damaging	Het
Syf2	A	G	4: 134,661,804 (GRCm39)	E56G	probably damaging	Het
Thap4	T	C	1: 93,642,588 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,887,580 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,514 (GRCm39)	E619G	probably damaging	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Tspan3	G	A	9: 56,043,980 (GRCm39)	R240W	probably damaging	Het
Tut7	G	T	13: 59,944,659 (GRCm39)	T658K	probably damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucp1	T	C	8: 84,021,876 (GRCm39)	V236A	probably damaging	Het
Usp34	TCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCAC	11: 23,314,480 (GRCm39)		probably benign	Het
Zfp940	T	C	7: 29,544,863 (GRCm39)	D348G	probably benign	Het
Zpld2	G	A	4: 133,927,658 (GRCm39)	A365V	probably benign	Het

Other mutations in Shisa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Shisa2	APN	14	59,867,435 (GRCm39)	missense	probably damaging	1.00
IGL02320:Shisa2	APN	14	59,867,246 (GRCm39)	missense	probably damaging	1.00
R2030:Shisa2	UTSW	14	59,867,134 (GRCm39)	missense	probably damaging	1.00
R3686:Shisa2	UTSW	14	59,867,228 (GRCm39)	missense	probably damaging	1.00
R5105:Shisa2	UTSW	14	59,867,263 (GRCm39)	missense	possibly damaging	0.78
R6014:Shisa2	UTSW	14	59,867,357 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACTCAACTGTCAGCAGGC -3'
(R):5'- TTCAATTTTGCATCTGGAGACACAC -3'

Sequencing Primer
(F):5'- GTCAGCAGGCCACCCAGATC -3'
(R):5'- TGCATCTGGAGACACACACAGAC -3'

Posted On

2015-10-08