Mutagenetix > Incidental Mutation

Incidental Mutation 'R1171:Zswim8'

99468

Institutional Source

Beutler Lab

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

MMRRC Submission

039244-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20713113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 360 (R360Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000223840] [ENSMUST00000224129] [ENSMUST00000224751]

AlphaFold

Q3UHH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022358
AA Change: R360Q

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: R360Q

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

noncoding transcript
Transcript: ENSMUST00000223782

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223840
AA Change: R360Q

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000224129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224165

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224751
AA Change: R360Q

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225743

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 96.2%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,112,377	Y48C	probably damaging	Het
Acsm5	A	T	7: 119,540,852	E492V	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atr	T	C	9: 95,907,323	F1511L	probably damaging	Het
BC005561	T	C	5: 104,520,903	V1097A	possibly damaging	Het
Bdkrb2	G	T	12: 105,592,157	R219L	probably benign	Het
Bhmt2	A	T	13: 93,662,329	M328K	probably benign	Het
Btbd3	A	G	2: 138,283,961	D286G	probably benign	Het
Bub1b	T	G	2: 118,606,686	L122V	probably benign	Het
Caml	T	C	13: 55,625,007	S155P	probably damaging	Het
Cfap43	T	C	19: 47,835,711	K74E	probably benign	Het
Chst4	A	G	8: 110,030,623	S120P	probably damaging	Het
Col11a1	A	G	3: 114,066,564	D213G	unknown	Het
Cxcl10	CAC	CACTAAC	5: 92,348,086		probably null	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Cyp26b1	A	T	6: 84,576,671	I167N	possibly damaging	Het
Dchs1	A	G	7: 105,757,714	S2195P	probably benign	Het
Ddx25	T	A	9: 35,546,846	K326*	probably null	Het
Dip2c	A	T	13: 9,493,126	Y36F	possibly damaging	Het
Dock2	T	C	11: 34,695,241	D538G	probably damaging	Het
E4f1	C	T	17: 24,451,549	D55N	probably damaging	Het
Emp1	G	T	6: 135,381,079	W141L	probably damaging	Het
Faim2	T	A	15: 99,500,254	H271L	probably benign	Het
Fbxw9	T	C	8: 85,066,078	M352T	possibly damaging	Het
Fcrls	A	T	3: 87,256,860	F321I	probably benign	Het
Frzb	C	T	2: 80,438,490		probably null	Het
Gal3st1	G	T	11: 3,998,931	K379N	probably damaging	Het
Gm5519	G	A	19: 33,822,972	C22Y	possibly damaging	Het
Gpn3	T	C	5: 122,378,520	F71L	probably benign	Het
H2-M9	A	G	17: 36,641,653	V167A	probably benign	Het
Hars	A	G	18: 36,771,414	F182L	possibly damaging	Het
Hid1	T	C	11: 115,352,717	T502A	probably benign	Het
Hipk3	G	T	2: 104,471,676	T57K	probably benign	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itpk1	G	A	12: 102,606,119	L112F	probably damaging	Het
Klk9	T	A	7: 43,794,393	D110E	possibly damaging	Het
Lemd3	A	T	10: 120,949,341	M535K	possibly damaging	Het
Lipg	A	T	18: 74,945,823	S453T	possibly damaging	Het
Lrrc75a	A	T	11: 62,609,243	W150R	probably damaging	Het
Lyg1	T	C	1: 37,947,224	E143G	probably damaging	Het
Map3k1	A	G	13: 111,755,643	V1026A	probably benign	Het
Mgat3	T	A	15: 80,211,637	F222I	probably benign	Het
Mindy4	A	T	6: 55,255,616	N348I	possibly damaging	Het
Myo1b	A	C	1: 51,778,525	F532C	probably damaging	Het
Naif1	T	A	2: 32,452,546	N36K	probably damaging	Het
Nkpd1	C	A	7: 19,524,087	A597E	possibly damaging	Het
Npr2	A	G	4: 43,647,260	D772G	possibly damaging	Het
Olfr2	T	C	7: 107,001,584	N92S	probably benign	Het
Olfr658	T	G	7: 104,644,997	D123A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Pdgfra	A	T	5: 75,173,447	I394F	probably damaging	Het
Pdzrn3	G	A	6: 101,150,877	R943C	probably damaging	Het
Pml	A	G	9: 58,234,538	V337A	probably damaging	Het
Pnpla2	T	A	7: 141,458,881	M321K	probably benign	Het
Poln	A	T	5: 34,103,940	N546K	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prss28	T	A	17: 25,310,055	F123L	possibly damaging	Het
Psg18	A	G	7: 18,346,079	V399A	probably benign	Het
Rab5a	T	C	17: 53,506,415	C212R	probably damaging	Het
Ranbp6	A	T	19: 29,812,279	D224E	probably benign	Het
Recql4	T	C	15: 76,704,039	I1104M	possibly damaging	Het
Rev1	A	T	1: 38,088,500	N226K	possibly damaging	Het
Rhbdl3	T	A	11: 80,353,592	V375E	possibly damaging	Het
Senp6	T	A	9: 80,116,725	N423K	possibly damaging	Het
Sertad2	C	G	11: 20,648,091	L96V	probably benign	Het
Slc33a1	T	A	3: 63,953,894	T296S	probably benign	Het
Smurf2	G	A	11: 106,852,618	P188S	possibly damaging	Het
Spta1	T	A	1: 174,211,614	Y1174*	probably null	Het
Stra6l	A	T	4: 45,864,982	T103S	probably benign	Het
Swt1	C	T	1: 151,405,521	A352T	probably damaging	Het
Tdgf1	C	A	9: 110,943,167	V54L	probably benign	Het
Tigd2	T	A	6: 59,211,376	N409K	possibly damaging	Het
Tlr6	G	T	5: 64,955,250	H105N	probably benign	Het
Tmprss9	A	C	10: 80,879,858	T15P	possibly damaging	Het
Tnik	C	T	3: 28,532,940	T120M	probably damaging	Het
Tnr	T	A	1: 159,858,210	I337N	probably damaging	Het
Top3a	A	G	11: 60,750,593	Y422H	probably benign	Het
Trim67	A	G	8: 124,829,081	N768S	probably damaging	Het
Ttn	A	G	2: 76,705,966	V35016A	probably benign	Het
Utrn	A	C	10: 12,481,308	S312R	probably damaging	Het
Vdac2	A	G	14: 21,837,811	Y62C	probably damaging	Het
Vwa5b2	A	G	16: 20,604,984	T1216A	probably benign	Het
Wfdc16	T	C	2: 164,638,483	K31E	possibly damaging	Het
Wtip	C	T	7: 34,125,496	C221Y	probably damaging	Het
Xrn1	A	G	9: 95,991,011	D640G	possibly damaging	Het
Zdhhc5	T	C	2: 84,692,341	R293G	probably benign	Het
Zfp536	T	C	7: 37,569,634	D119G	probably damaging	Het
Zfp81	T	C	17: 33,335,280	T187A	probably benign	Het
Zfp810	C	T	9: 22,278,826	G262D	possibly damaging	Het
Zfp963	A	C	8: 69,743,019	I203M	possibly damaging	Het
Zfpm2	T	C	15: 41,101,679	M520T	probably damaging	Het
Zwilch	T	A	9: 64,158,717	H254L	possibly 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
R0458:Zswim8	UTSW	14	20718897	missense	probably damaging	1.00
R1087:Zswim8	UTSW	14	20717865	splice site	probably null
R1158:Zswim8	UTSW	14	20721668	splice site	probably benign
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

Posted On

2014-01-15