Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Zswim2'

380697

Institutional Source

Beutler Lab

Gene Symbol

Zswim2

Ensembl Gene

ENSMUSG00000034552

Gene Name

zinc finger SWIM-type containing 2

Synonyms

4933437F18Rik, MEX, 1700025P14Rik

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83915079-83941228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83925227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 110 (L110P)

Ref Sequence

ENSEMBL: ENSMUSP00000119439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038223] [ENSMUST00000152829]

AlphaFold

Q9D9X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038223
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: L110P

Domain	Start	End	E-Value	Type
Pfam:SWIM	54	87	1.4e-7	PFAM
RING	147	198	8.3e-5	SMART
ZnF_ZZ	229	273	1.8e-5	SMART
RING	344	385	1.3e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000152829
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: L110P

Domain	Start	End	E-Value	Type
Pfam:SWIM	54	87	1.6e-10	PFAM
RING	147	198	1.69e-2	SMART
ZnF_ZZ	229	273	3.65e-3	SMART
Blast:RING	344	365	3e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155127

Meta Mutation Damage Score

0.5935

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het

Other mutations in Zswim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Zswim2	APN	2	83923771	missense	probably benign	0.00
IGL01140:Zswim2	APN	2	83915328	missense	probably benign	0.06
IGL01362:Zswim2	APN	2	83915346	missense	probably benign	0.09
IGL01768:Zswim2	APN	2	83917957	missense	probably benign	0.00
IGL02166:Zswim2	APN	2	83915406	nonsense	probably null
IGL02187:Zswim2	APN	2	83923638	missense	probably damaging	0.98
IGL02239:Zswim2	APN	2	83938763	nonsense	probably null
IGL02629:Zswim2	APN	2	83925209	missense	possibly damaging	0.94
R0609:Zswim2	UTSW	2	83923659	missense	probably benign	0.02
R0943:Zswim2	UTSW	2	83917998	missense	possibly damaging	0.88
R0946:Zswim2	UTSW	2	83923759	missense	probably benign	0.10
R1006:Zswim2	UTSW	2	83915393	missense	probably damaging	0.97
R1191:Zswim2	UTSW	2	83923695	missense	possibly damaging	0.60
R1309:Zswim2	UTSW	2	83938756	missense	probably damaging	1.00
R1549:Zswim2	UTSW	2	83923748	missense	probably benign	0.24
R1563:Zswim2	UTSW	2	83915282	missense	possibly damaging	0.71
R1739:Zswim2	UTSW	2	83915340	nonsense	probably null
R1994:Zswim2	UTSW	2	83915663	missense	possibly damaging	0.95
R4039:Zswim2	UTSW	2	83915994	missense	probably damaging	1.00
R4645:Zswim2	UTSW	2	83915547	missense	probably benign	0.00
R4738:Zswim2	UTSW	2	83915395	missense	probably benign	0.16
R4855:Zswim2	UTSW	2	83916843	critical splice donor site	probably null
R4963:Zswim2	UTSW	2	83925110	missense	probably damaging	1.00
R5153:Zswim2	UTSW	2	83939666	missense	possibly damaging	0.75
R5401:Zswim2	UTSW	2	83925245	missense	possibly damaging	0.94
R5698:Zswim2	UTSW	2	83925183	missense	possibly damaging	0.92
R6002:Zswim2	UTSW	2	83915688	missense	probably damaging	0.98
R6396:Zswim2	UTSW	2	83923718	missense	probably damaging	1.00
R6447:Zswim2	UTSW	2	83915113	splice site	probably null
R6646:Zswim2	UTSW	2	83915784	nonsense	probably null
R6717:Zswim2	UTSW	2	83915409	missense	probably benign	0.02
R6735:Zswim2	UTSW	2	83923761	missense	probably benign	0.04
R6830:Zswim2	UTSW	2	83939684	missense	probably damaging	1.00
R7056:Zswim2	UTSW	2	83920748	critical splice acceptor site	probably null
R7088:Zswim2	UTSW	2	83915727	nonsense	probably null
R7383:Zswim2	UTSW	2	83915328	missense	possibly damaging	0.95
R7440:Zswim2	UTSW	2	83920719	missense	probably damaging	1.00
R7747:Zswim2	UTSW	2	83915607	missense	probably damaging	0.97
R7955:Zswim2	UTSW	2	83916883	missense	probably benign	0.00
R7983:Zswim2	UTSW	2	83923567	critical splice donor site	probably null
R8765:Zswim2	UTSW	2	83941087	missense	probably damaging	1.00
R9295:Zswim2	UTSW	2	83917960	missense	probably benign	0.00
R9465:Zswim2	UTSW	2	83915931	missense	probably benign	0.21
X0018:Zswim2	UTSW	2	83941094	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAATTTCATGATGGAACTTCCTAGG -3'
(R):5'- CAGAACAGTCCACCTGGTAC -3'

Sequencing Primer
(F):5'- CTTTAGAGTACAAAAGCATCACCTG -3'
(R):5'- GAACAGTCCACCTGGTACTATCTC -3'

Posted On

2016-04-15