Mutagenetix > Incidental Mutations

Incidental Mutation 'R4675:Zswim8'

349527

Institutional Source

Beutler Lab

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

MMRRC Submission

041930-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4675 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20714613 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 684 (D684N)

Ref Sequence

ENSEMBL: ENSMUSP00000153285 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022358
AA Change: D684N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: D684N

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: ENSMUST00000223561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223782

Predicted Effect

probably benign
Transcript: ENSMUST00000223840

Predicted Effect

probably benign
Transcript: ENSMUST00000224129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224485

Predicted Effect

probably benign
Transcript: ENSMUST00000224751
AA Change: D684N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225743

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (89/94)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	T	C	9: 105,144,448	D133G	probably benign	Het
2310061I04Rik	C	A	17: 35,892,928	K291N	probably damaging	Het
Adgra1	A	G	7: 139,876,186	T577A	probably damaging	Het
Akip1	T	A	7: 109,708,981	I152N	possibly damaging	Het
Armc9	A	G	1: 86,202,518	Y8C	probably damaging	Het
Atp1a4	A	T	1: 172,257,656	V66E	possibly damaging	Het
Atp2a3	A	T	11: 72,981,797	T724S	probably damaging	Het
Bmp1	C	A	14: 70,492,844	R416L	probably damaging	Het
Bmt2	G	T	6: 13,663,301	A66E	probably benign	Het
Bscl2	A	T	19: 8,848,159	D403V	possibly damaging	Het
Cbx2	T	A	11: 119,029,109	I500N	probably damaging	Het
Cd84	A	T	1: 171,873,320	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,673,485	T36A	probably benign	Het
Cebpd	A	G	16: 15,887,521	D66G	probably damaging	Het
Cntnap4	A	G	8: 112,785,836	Y610C	probably damaging	Het
Col11a2	T	C	17: 34,064,293		probably null	Het
Col17a1	T	C	19: 47,663,058		probably null	Het
Cracr2b	A	G	7: 141,463,538	D43G	probably damaging	Het
Dgkz	T	A	2: 91,938,346	K697*	probably null	Het
Dnah7b	T	A	1: 46,217,157	D1873E	possibly damaging	Het
Dst	G	A	1: 34,275,703	E6472K	possibly damaging	Het
Duox2	T	C	2: 122,280,933	D1428G	probably damaging	Het
Elmod2	T	C	8: 83,316,908	N210S	probably damaging	Het
Ephx1	A	G	1: 180,994,691	F220S	probably damaging	Het
F13b	A	G	1: 139,501,804	Y20C	unknown	Het
Fbn2	T	A	18: 58,040,193	N2051I	possibly damaging	Het
Gabrg2	G	A	11: 41,968,823	H201Y	probably damaging	Het
Gbgt1	T	C	2: 28,498,441	F46S	possibly damaging	Het
Gjd4	A	G	18: 9,280,578	S167P	probably damaging	Het
Gm21731	T	C	13: 120,240,826	W53R	probably damaging	Het
Gm281	A	T	14: 13,856,724	D462E	probably benign	Het
Heatr5a	T	C	12: 51,877,347	N2028D	probably benign	Het
Heca	T	C	10: 17,915,309	H333R	probably benign	Het
Herc1	T	C	9: 66,391,458	S625P	probably damaging	Het
Ighv1-55	T	C	12: 115,208,555		probably benign	Het
Ighv5-8	G	A	12: 113,655,157	S64N	probably benign	Het
Itga1	G	T	13: 115,001,691		probably null	Het
Kif21a	C	A	15: 90,940,545	R1342L	possibly damaging	Het
Ksr1	G	A	11: 79,074,360	P118S	possibly damaging	Het
Lat2	T	C	5: 134,606,057	N100S	probably damaging	Het
Lrit3	T	A	3: 129,788,472	D501V	probably damaging	Het
Lrrfip1	T	A	1: 91,103,320		probably null	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Med21	T	A	6: 146,650,193	L114H	probably damaging	Het
Mfap4	A	T	11: 61,485,510		probably benign	Het
Mpdz	G	A	4: 81,383,812	R233W	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Neto2	T	G	8: 85,669,704	H104P	probably damaging	Het
Nr1h2	T	C	7: 44,552,555	T36A	possibly damaging	Het
Olfr1252	T	C	2: 89,721,494	I206V	probably benign	Het
Olfr472	A	G	7: 107,903,360	I214M	probably damaging	Het
Olfr497	T	C	7: 108,423,102	V177A	possibly damaging	Het
Olfr53	A	T	7: 140,652,161	M61L	probably damaging	Het
Olfr577	A	G	7: 102,973,806	M62T	probably damaging	Het
Olfr613	T	G	7: 103,551,976	L64V	probably damaging	Het
Olfr656	T	A	7: 104,618,424	C248*	probably null	Het
Olfr878	T	C	9: 37,919,586	*310R	probably null	Het
Pcbp3	A	G	10: 76,771,035	L241S	possibly damaging	Het
Pcf11	G	A	7: 92,659,777		probably benign	Het
Podxl	G	A	6: 31,526,644	T254M	possibly damaging	Het
Prr27	A	C	5: 87,843,241	E237D	possibly damaging	Het
Rdh16	G	T	10: 127,801,447	V84F	probably damaging	Het
Rnf26	A	T	9: 44,112,131	D273E	probably benign	Het
Rpl13a	A	T	7: 45,126,818		probably benign	Het
Rpl3l	A	G	17: 24,733,610	K239E	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,579,904		probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Ryk	A	G	9: 102,891,216	D352G	possibly damaging	Het
Setd1b	T	A	5: 123,160,998		probably benign	Het
Sh2b1	G	A	7: 126,471,446	A361V	possibly damaging	Het
Slc35f3	A	T	8: 126,321,196	K92*	probably null	Het
Slc39a10	A	G	1: 46,817,984		probably benign	Het
Slc47a1	G	A	11: 61,363,031	T194I	probably benign	Het
Slc6a3	C	A	13: 73,544,817	N185K	probably damaging	Het
Stag1	T	C	9: 100,848,705	V391A	probably damaging	Het
Syne2	A	C	12: 75,949,301	N2206T	probably damaging	Het
Tbc1d23	C	A	16: 57,182,962	R481I	possibly damaging	Het
Tfam	A	G	10: 71,233,395	S166P	probably benign	Het
Tmem63a	A	G	1: 180,956,491	H212R	probably benign	Het
Txndc11	T	A	16: 11,084,881	Q634L	possibly damaging	Het
Usp31	T	C	7: 121,707,325		probably benign	Het
Vmn1r204	A	T	13: 22,556,792	M198L	probably damaging	Het
Vmn2r17	A	T	5: 109,427,183	T119S	probably benign	Het
Vsig1	A	G	X: 140,933,112	D227G	probably damaging	Het
Zfhx2	G	A	14: 55,067,221	P1102L	probably benign	Het
Zfp715	T	C	7: 43,300,020	Q172R	probably benign	Het
Zfp872	A	G	9: 22,197,405	D53G	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
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
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
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'- ATGAGCCTGGATGACAGCAG -3'
(R):5'- CAAACAGGTCATGCTCCTCC -3'

Sequencing Primer
(F):5'- GGATGACAGCAGCCTGG -3'
(R):5'- GGTCATGCTCCTCCCCAGTC -3'

Posted On

2015-10-08