Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Zswim8'

41331

Institutional Source

Beutler Lab

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20718897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1128 (R1128W)

Ref Sequence

ENSEMBL: ENSMUSP00000153285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000047490] [ENSMUST00000223679] [ENSMUST00000223840] [ENSMUST00000224751] [ENSMUST00000225000]

AlphaFold

Q3UHH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022358
AA Change: R1135W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: R1135W

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC
low complexity region	89	102	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC
low complexity region	578	612	N/A	INTRINSIC
low complexity region	736	751	N/A	INTRINSIC
low complexity region	1000	1015	N/A	INTRINSIC
low complexity region	1120	1135	N/A	INTRINSIC
low complexity region	1176	1211	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1343	1355	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1491	1511	N/A	INTRINSIC
low complexity region	1527	1542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047490

SMART Domains

Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308

Domain	Start	End	E-Value	Type
Pfam:HSNSD	25	514	9.1e-245	PFAM
Pfam:Sulfotransfer_1	603	866	9.1e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223561

Predicted Effect

probably benign
Transcript: ENSMUST00000223679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223782

Predicted Effect

probably damaging
Transcript: ENSMUST00000223840
AA Change: R1101W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224485

Predicted Effect

probably damaging
Transcript: ENSMUST00000224751
AA Change: R1128W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000224829

Predicted Effect

probably benign
Transcript: ENSMUST00000225000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225743

Predicted Effect

probably benign
Transcript: ENSMUST00000225911

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,321,107	I98V	probably benign	Het
4933407L21Rik	A	G	1: 85,929,026	E8G	unknown	Het
9130008F23Rik	T	C	17: 40,880,236	T101A	probably benign	Het
Abcb8	C	T	5: 24,406,233	T455I	probably benign	Het
Abcb9	C	A	5: 124,082,146		probably null	Het
Akp3	T	G	1: 87,126,537	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,752,408	D109V	probably damaging	Het
Aurka	C	A	2: 172,370,446	E4*	probably null	Het
Cacna1g	T	A	11: 94,409,440	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,781,972		probably benign	Het
Cfap61	T	C	2: 146,008,917	V325A	probably benign	Het
Clasp2	T	A	9: 113,906,224		probably null	Het
Crim1	T	A	17: 78,313,226	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,174,043	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,161,878	V399A	possibly damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,903,290	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,308,867		probably benign	Het
Epn2	C	A	11: 61,546,455	R97L	possibly damaging	Het
Fzd6	G	A	15: 39,031,281	A281T	probably damaging	Het
Garem2	T	A	5: 30,114,182	I214N	probably damaging	Het
Glg1	A	G	8: 111,160,606		probably benign	Het
Golm1	T	C	13: 59,664,364	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,332,033	R12L	probably benign	Het
Gstm1	T	A	3: 108,017,363	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,644,134	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,476,381	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Icam1	A	G	9: 21,027,861		probably null	Het
Itga9	T	C	9: 118,681,028		probably null	Het
Kif15	T	C	9: 123,009,359	F1121L	probably benign	Het
Klhl30	T	A	1: 91,360,996		probably benign	Het
Ldlrad1	T	C	4: 107,216,190	C141R	probably damaging	Het
Lemd2	T	C	17: 27,190,653	D508G	probably damaging	Het
Lilra5	A	C	7: 4,238,219	T52P	probably benign	Het
Lrtm2	G	A	6: 119,317,268	P301S	probably damaging	Het
Mcoln2	A	G	3: 146,150,013		probably benign	Het
Mkrn2os	A	G	6: 115,586,670	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,133,370	V607A	probably benign	Het
Mmadhc	T	C	2: 50,281,161	Y213C	probably benign	Het
Mpo	C	A	11: 87,796,297	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,020,177	I310M	probably damaging	Het
Muc5b	C	A	7: 141,864,972	A3885D	probably benign	Het
Mvp	A	G	7: 126,998,491	W152R	probably damaging	Het
Nmur2	A	T	11: 56,040,568	F106I	possibly damaging	Het
Nr3c2	T	A	8: 76,909,538	F423I	probably damaging	Het
Olfr1030	A	G	2: 85,984,256	S139G	probably benign	Het
Olfr1500	G	T	19: 13,828,229	H56N	probably benign	Het
Olfr355	A	G	2: 36,927,337	V259A	probably damaging	Het
Olfr894	G	A	9: 38,219,048	C75Y	probably damaging	Het
Pappa	A	G	4: 65,155,882	I224M	probably damaging	Het
Prex1	A	C	2: 166,585,823	S800A	probably damaging	Het
Prkaca	T	C	8: 83,995,282		probably benign	Het
Ptpru	A	T	4: 131,799,675	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,886,998		probably null	Het
Rbms2	C	T	10: 128,151,189	C50Y	probably damaging	Het
Rd3	C	T	1: 191,977,453	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,257	I247L	probably benign	Het
Sf3b3	A	G	8: 110,812,136		probably benign	Het
Slc35c1	A	T	2: 92,454,513	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,363,469		probably null	Het
Snx6	G	T	12: 54,768,136	Y17*	probably null	Het
Sox6	C	A	7: 115,489,794	R611L	probably damaging	Het
Spata13	G	A	14: 60,692,043	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,904,959	A483D	probably damaging	Het
Stat1	C	T	1: 52,149,052		probably benign	Het
Tab2	A	T	10: 7,919,555	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 156,030,407	N213S	probably damaging	Het
Trim39	T	C	17: 36,261,512	K300E	probably damaging	Het
Tubal3	T	C	13: 3,933,137	S306P	probably damaging	Het
Ufm1	A	G	3: 53,861,234	L33P	probably damaging	Het
Washc4	G	A	10: 83,546,799	V26I	possibly damaging	Het
Wfs1	A	G	5: 36,968,669	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,423,476	V109A	probably damaging	Het
Zfp667	T	C	7: 6,304,845	S171P	probably benign	Het
Zkscan5	T	A	5: 145,205,471	H59Q	probably damaging	Het

Other mutations in Zswim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Zswim8	APN	14	20718475	missense	probably damaging	0.99
IGL00470:Zswim8	APN	14	20723181	missense	probably damaging	1.00
IGL00675:Zswim8	APN	14	20716901	unclassified	probably benign
IGL00896:Zswim8	APN	14	20716001	missense	probably damaging	1.00
IGL01343:Zswim8	APN	14	20713341	missense	probably damaging	1.00
IGL01736:Zswim8	APN	14	20714712	missense	probably benign	0.11
IGL01961:Zswim8	APN	14	20712334	missense	possibly damaging	0.76
IGL02331:Zswim8	APN	14	20723257	missense	probably damaging	1.00
IGL02485:Zswim8	APN	14	20711887	missense	probably damaging	0.98
IGL02662:Zswim8	APN	14	20713074	missense	probably benign	0.14
IGL03001:Zswim8	APN	14	20714391	missense	probably damaging	1.00
pool	UTSW	14	20714573	splice site	probably null
R0123:Zswim8	UTSW	14	20716490	splice site	probably benign
R0362:Zswim8	UTSW	14	20721945	missense	possibly damaging	0.58
R0402:Zswim8	UTSW	14	20710766	missense	probably damaging	1.00
R1087:Zswim8	UTSW	14	20717865	splice site	probably null
R1158:Zswim8	UTSW	14	20721668	splice site	probably benign
R1171:Zswim8	UTSW	14	20713113	missense	possibly damaging	0.94
R1389:Zswim8	UTSW	14	20710748	missense	probably damaging	1.00
R1773:Zswim8	UTSW	14	20711530	missense	probably damaging	0.96
R1780:Zswim8	UTSW	14	20716327	missense	probably damaging	0.99
R1850:Zswim8	UTSW	14	20710747	nonsense	probably null
R2421:Zswim8	UTSW	14	20719457	missense	probably damaging	1.00
R3826:Zswim8	UTSW	14	20711089	nonsense	probably null
R3965:Zswim8	UTSW	14	20713073	missense	probably benign
R4301:Zswim8	UTSW	14	20713909	missense	possibly damaging	0.91
R4499:Zswim8	UTSW	14	20714297	missense	probably benign	0.05
R4633:Zswim8	UTSW	14	20718823	missense	probably damaging	1.00
R4675:Zswim8	UTSW	14	20714613	missense	probably benign
R4958:Zswim8	UTSW	14	20713465	missense	probably damaging	1.00
R5255:Zswim8	UTSW	14	20721651	missense	probably damaging	1.00
R5288:Zswim8	UTSW	14	20718871	missense	possibly damaging	0.92
R5341:Zswim8	UTSW	14	20716054	missense	probably damaging	1.00
R5495:Zswim8	UTSW	14	20722286	missense	probably damaging	0.97
R5652:Zswim8	UTSW	14	20713427	missense	possibly damaging	0.62
R6273:Zswim8	UTSW	14	20713453	missense	probably benign	0.06
R6281:Zswim8	UTSW	14	20714640	missense	probably benign	0.02
R6364:Zswim8	UTSW	14	20713011	missense	probably damaging	1.00
R6426:Zswim8	UTSW	14	20718526	missense	probably damaging	0.99
R6576:Zswim8	UTSW	14	20721874	missense	probably benign	0.41
R6798:Zswim8	UTSW	14	20715992	missense	probably damaging	1.00
R7059:Zswim8	UTSW	14	20714573	splice site	probably null
R7243:Zswim8	UTSW	14	20714368	missense	probably damaging	1.00
R7250:Zswim8	UTSW	14	20719968	missense	probably damaging	1.00
R7311:Zswim8	UTSW	14	20721484	missense	probably damaging	1.00
R7567:Zswim8	UTSW	14	20719933	missense	probably damaging	1.00
R7635:Zswim8	UTSW	14	20716300	missense	probably damaging	0.99
R7771:Zswim8	UTSW	14	20712980	missense	probably damaging	1.00
R7874:Zswim8	UTSW	14	20723149	missense	probably damaging	0.98
R7994:Zswim8	UTSW	14	20708004	missense	possibly damaging	0.95
R8466:Zswim8	UTSW	14	20710676	missense	possibly damaging	0.93
R9019:Zswim8	UTSW	14	20711051	missense	probably damaging	1.00
R9177:Zswim8	UTSW	14	20711840	missense	probably damaging	1.00
R9192:Zswim8	UTSW	14	20719520	missense	probably damaging	1.00
R9229:Zswim8	UTSW	14	20716325	missense	probably benign	0.45
R9268:Zswim8	UTSW	14	20711840	missense	probably damaging	1.00
R9562:Zswim8	UTSW	14	20712082	nonsense	probably null
R9589:Zswim8	UTSW	14	20713103	missense	probably damaging	0.99
R9621:Zswim8	UTSW	14	20722163	missense	probably benign	0.00
X0026:Zswim8	UTSW	14	20710632	splice site	probably null
X0028:Zswim8	UTSW	14	20714657	missense	probably benign	0.19
X0058:Zswim8	UTSW	14	20712990	missense	probably damaging	0.99
Z1177:Zswim8	UTSW	14	20713044	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTCACAGAGAAGAATGTACCCG -3'
(R):5'- AGCTGCTAATGCTGTCACTGTCTTG -3'

Sequencing Primer
(F):5'- TCCAGTCAGGTTGTGCCC -3'
(R):5'- TTGTCCTCGACCCCAAGAAG -3'

Posted On

2013-05-23