Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Zswim8'

5901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20723181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1746 (D1746N)

Ref Sequence

ENSEMBL: ENSMUSP00000153027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000047490] [ENSMUST00000223679] [ENSMUST00000223840] [ENSMUST00000224751] [ENSMUST00000225000] [ENSMUST00000225419]

AlphaFold

Q3UHH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022358
AA Change: D1780N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: D1780N

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: D1746N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224485

Predicted Effect

probably damaging
Transcript: ENSMUST00000224751
AA Change: D1773N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000224829

Predicted Effect

probably benign
Transcript: ENSMUST00000225000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225010

Predicted Effect

unknown
Transcript: ENSMUST00000225911
AA Change: R220Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225187

Predicted Effect

probably benign
Transcript: ENSMUST00000225419

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,773,003	S416T	probably damaging	Het
4732463B04Rik	G	T	12: 84,043,804		probably benign	Het
4921501E09Rik	T	A	17: 33,065,863	H655L	probably benign	Het
Abcd1	T	C	X: 73,717,548	L173P	probably damaging	Het
Adam18	T	A	8: 24,628,133	D41V	probably damaging	Het
Aspa	T	G	11: 73,313,621		probably benign	Het
C530008M17Rik	G	A	5: 76,866,056		probably benign	Het
Cacna2d1	T	A	5: 16,246,656		probably benign	Het
Cubn	T	A	2: 13,278,418	I3570L	probably benign	Het
Cyp2j13	G	A	4: 96,062,038	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,239,501		probably benign	Het
Dchs1	A	T	7: 105,758,207	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,611,664	A229T	possibly damaging	Het
Dst	A	T	1: 34,188,962	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,530,939	P554L	probably damaging	Het
Fcgbp	C	A	7: 28,075,086	C28*	probably null	Het
Gm773	T	C	X: 56,202,013	D53G	probably benign	Het
Hhat	A	G	1: 192,717,017	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,645,525	S310P	probably benign	Het
Kat2a	G	A	11: 100,705,384	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,897,796	D893G	probably benign	Het
Lama2	T	C	10: 27,243,742	T709A	probably benign	Het
Mcm8	G	A	2: 132,827,537	V281I	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Nup133	T	G	8: 123,939,083	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,323,390	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,490,713	A224V	probably damaging	Het
Pla2g4e	G	A	2: 120,185,238	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754	F118L	probably damaging	Het
Sp2	C	T	11: 96,954,561	R578H	probably damaging	Het
Sphkap	A	G	1: 83,277,910	M706T	possibly damaging	Het
Tarsl2	T	C	7: 65,688,908	M689T	probably benign	Het
Trrap	T	C	5: 144,818,038	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,638,574	S203T	probably benign	Het
Txnrd1	T	G	10: 82,875,662	D42E	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
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
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

Posted On

2012-04-20