Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Zswim8'

36289

Institutional Source

Beutler Lab

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20757620-20773687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20772013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1572 (S1572T)

Ref Sequence

ENSEMBL: ENSMUSP00000153285 (fasta)

Gene Model

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

AlphaFold

Q3UHH1

Predicted Effect

probably benign
Transcript: ENSMUST00000022358
AA Change: S1579T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: S1579T

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 benign
Transcript: ENSMUST00000223840
AA Change: S1545T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224485

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224751
AA Change: S1572T

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000225911
AA Change: S42T

Predicted Effect

probably benign
Transcript: ENSMUST00000225000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225010

Predicted Effect

probably benign
Transcript: ENSMUST00000225419

Predicted Effect

probably benign
Transcript: ENSMUST00000224829

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,563,261 (GRCm39)	Q401R	probably benign	Het
Acp3	A	G	9: 104,191,626 (GRCm39)	F220S	probably damaging	Het
Adam7	A	G	14: 68,747,105 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,526,584 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,625,051 (GRCm39)		probably benign	Het
Atg10	T	C	13: 91,189,109 (GRCm39)		probably null	Het
Atm	T	C	9: 53,370,138 (GRCm39)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,060,443 (GRCm39)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm39)	K1111E	probably damaging	Het
Ciao2b	T	C	8: 105,368,222 (GRCm39)	D34G	probably null	Het
Col11a2	T	A	17: 34,281,420 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,236 (GRCm39)	W116R	probably damaging	Het
Ctsk	A	T	3: 95,408,255 (GRCm39)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,787,813 (GRCm39)		probably null	Het
Dcdc2b	T	C	4: 129,504,031 (GRCm39)		probably null	Het
Ddx28	C	T	8: 106,737,926 (GRCm39)	R44Q	probably damaging	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Dnah17	A	T	11: 117,989,365 (GRCm39)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,185,592 (GRCm39)	S110G	probably benign	Het
Drc7	T	C	8: 95,799,483 (GRCm39)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm39)		probably null	Het
Ecm1	A	G	3: 95,644,369 (GRCm39)	I152T	possibly damaging	Het
Edc4	C	G	8: 106,613,407 (GRCm39)	P307R	probably damaging	Het
Eeig2	C	T	3: 108,887,497 (GRCm39)	E256K	probably benign	Het
Egr1	A	G	18: 34,996,366 (GRCm39)	T383A	possibly damaging	Het
Eml2	A	G	7: 18,924,731 (GRCm39)		probably null	Het
Eno4	A	G	19: 58,932,056 (GRCm39)		probably benign	Het
Erbb4	A	T	1: 68,369,429 (GRCm39)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,186,488 (GRCm39)	T310K	probably benign	Het
Fam83e	G	T	7: 45,376,393 (GRCm39)	V369L	probably benign	Het
Fancc	A	T	13: 63,545,970 (GRCm39)	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,151,697 (GRCm39)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,223,133 (GRCm39)	C826*	probably null	Het
Foxi3	A	G	6: 70,933,612 (GRCm39)	D33G	probably benign	Het
Gcn1	T	C	5: 115,714,167 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,410,310 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,384,853 (GRCm39)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,670,949 (GRCm39)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,092,892 (GRCm39)	S90C	probably damaging	Het
Has2	A	C	15: 56,545,057 (GRCm39)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,935,644 (GRCm39)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,348,038 (GRCm39)	V48A	probably benign	Het
Lig1	T	A	7: 13,030,730 (GRCm39)		probably benign	Het
Magi2	A	G	5: 19,432,573 (GRCm39)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,128,787 (GRCm39)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm39)		probably null	Het
Mfsd4a	A	T	1: 131,987,013 (GRCm39)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,086,526 (GRCm39)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,785,600 (GRCm39)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,800,414 (GRCm39)	W990R	probably damaging	Het
Myt1	A	T	2: 181,405,186 (GRCm39)		probably benign	Het
Nf1	C	T	11: 79,427,704 (GRCm39)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,439,623 (GRCm39)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,173,649 (GRCm39)		probably null	Het
Nxf1	T	C	19: 8,741,515 (GRCm39)		probably null	Het
Or7a36	A	T	10: 78,820,220 (GRCm39)	M199L	probably benign	Het
P4hb	T	C	11: 120,454,162 (GRCm39)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,574,457 (GRCm39)	N243S	probably benign	Het
Parp8	G	A	13: 117,061,504 (GRCm39)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,568,380 (GRCm39)	D543A	probably benign	Het
Pld5	A	T	1: 175,803,146 (GRCm39)	L311*	probably null	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plpp5	A	T	8: 26,214,219 (GRCm39)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,528,285 (GRCm39)	L542S	probably damaging	Het
Prkar2b	A	T	12: 32,037,973 (GRCm39)		probably null	Het
Psmg1	A	T	16: 95,789,171 (GRCm39)	S129T	possibly damaging	Het
Radil	T	C	5: 142,529,582 (GRCm39)	D38G	probably benign	Het
Ric1	T	C	19: 29,578,411 (GRCm39)		probably null	Het
Rp1l1	T	A	14: 64,268,515 (GRCm39)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,645,100 (GRCm39)	M1K	probably null	Het
Serpina6	G	T	12: 103,618,208 (GRCm39)	L202I	probably damaging	Het
Simc1	T	C	13: 54,676,280 (GRCm39)	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,270,767 (GRCm39)		probably benign	Het
Slc34a1	T	A	13: 55,550,711 (GRCm39)		probably null	Het
Slfn10-ps	T	A	11: 82,926,600 (GRCm39)		noncoding transcript	Het
Sohlh2	A	G	3: 55,115,163 (GRCm39)	N383D	probably damaging	Het
Spag6	T	A	2: 18,715,302 (GRCm39)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,388,475 (GRCm39)		probably benign	Het
St3gal4	T	A	9: 34,964,469 (GRCm39)	K199*	probably null	Het
Stat5a	T	A	11: 100,772,909 (GRCm39)	D712E	probably benign	Het
Stmn2	A	T	3: 8,610,750 (GRCm39)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,233,777 (GRCm39)	P20S	possibly damaging	Het
Taf2	A	T	15: 54,909,325 (GRCm39)	V640E	probably damaging	Het
Tbce	T	C	13: 14,172,747 (GRCm39)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,935,374 (GRCm39)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,421,242 (GRCm39)	Y598*	probably null	Het
Ticrr	A	G	7: 79,327,088 (GRCm39)	S599G	probably damaging	Het
Tnc	A	C	4: 63,935,679 (GRCm39)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,216,402 (GRCm39)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,095,993 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,576,264 (GRCm39)	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,450,432 (GRCm39)	D181G	probably damaging	Het
Tut1	T	C	19: 8,932,891 (GRCm39)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,678,412 (GRCm39)	C769F	probably benign	Het
Vdac1	T	C	11: 52,265,800 (GRCm39)		probably benign	Het
Vmn2r124	T	C	17: 18,284,486 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,426,977 (GRCm39)		probably benign	Het
Wdr35	T	C	12: 9,045,625 (GRCm39)		probably benign	Het
Zdhhc7	T	A	8: 120,813,386 (GRCm39)	E141V	probably null	Het
Zfp12	C	A	5: 143,230,978 (GRCm39)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,626,819 (GRCm39)		probably benign	Het
Zfyve9	T	A	4: 108,538,166 (GRCm39)	K1033N	probably damaging	Het

Other mutations in Zswim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Zswim8	APN	14	20,768,543 (GRCm39)	missense	probably damaging	0.99
IGL00470:Zswim8	APN	14	20,773,249 (GRCm39)	missense	probably damaging	1.00
IGL00675:Zswim8	APN	14	20,766,969 (GRCm39)	unclassified	probably benign
IGL00896:Zswim8	APN	14	20,766,069 (GRCm39)	missense	probably damaging	1.00
IGL01343:Zswim8	APN	14	20,763,409 (GRCm39)	missense	probably damaging	1.00
IGL01736:Zswim8	APN	14	20,764,780 (GRCm39)	missense	probably benign	0.11
IGL01961:Zswim8	APN	14	20,762,402 (GRCm39)	missense	possibly damaging	0.76
IGL02331:Zswim8	APN	14	20,773,325 (GRCm39)	missense	probably damaging	1.00
IGL02485:Zswim8	APN	14	20,761,955 (GRCm39)	missense	probably damaging	0.98
IGL02662:Zswim8	APN	14	20,763,142 (GRCm39)	missense	probably benign	0.14
IGL03001:Zswim8	APN	14	20,764,459 (GRCm39)	missense	probably damaging	1.00
pool	UTSW	14	20,764,641 (GRCm39)	splice site	probably null
R0123:Zswim8	UTSW	14	20,766,558 (GRCm39)	splice site	probably benign
R0402:Zswim8	UTSW	14	20,760,834 (GRCm39)	missense	probably damaging	1.00
R0458:Zswim8	UTSW	14	20,768,965 (GRCm39)	missense	probably damaging	1.00
R1087:Zswim8	UTSW	14	20,767,933 (GRCm39)	splice site	probably null
R1158:Zswim8	UTSW	14	20,771,736 (GRCm39)	splice site	probably benign
R1171:Zswim8	UTSW	14	20,763,181 (GRCm39)	missense	possibly damaging	0.94
R1389:Zswim8	UTSW	14	20,760,816 (GRCm39)	missense	probably damaging	1.00
R1773:Zswim8	UTSW	14	20,761,598 (GRCm39)	missense	probably damaging	0.96
R1780:Zswim8	UTSW	14	20,766,395 (GRCm39)	missense	probably damaging	0.99
R1850:Zswim8	UTSW	14	20,760,815 (GRCm39)	nonsense	probably null
R2421:Zswim8	UTSW	14	20,769,525 (GRCm39)	missense	probably damaging	1.00
R3826:Zswim8	UTSW	14	20,761,157 (GRCm39)	nonsense	probably null
R3965:Zswim8	UTSW	14	20,763,141 (GRCm39)	missense	probably benign
R4301:Zswim8	UTSW	14	20,763,977 (GRCm39)	missense	possibly damaging	0.91
R4499:Zswim8	UTSW	14	20,764,365 (GRCm39)	missense	probably benign	0.05
R4633:Zswim8	UTSW	14	20,768,891 (GRCm39)	missense	probably damaging	1.00
R4675:Zswim8	UTSW	14	20,764,681 (GRCm39)	missense	probably benign
R4958:Zswim8	UTSW	14	20,763,533 (GRCm39)	missense	probably damaging	1.00
R5255:Zswim8	UTSW	14	20,771,719 (GRCm39)	missense	probably damaging	1.00
R5288:Zswim8	UTSW	14	20,768,939 (GRCm39)	missense	possibly damaging	0.92
R5341:Zswim8	UTSW	14	20,766,122 (GRCm39)	missense	probably damaging	1.00
R5495:Zswim8	UTSW	14	20,772,354 (GRCm39)	missense	probably damaging	0.97
R5652:Zswim8	UTSW	14	20,763,495 (GRCm39)	missense	possibly damaging	0.62
R6273:Zswim8	UTSW	14	20,763,521 (GRCm39)	missense	probably benign	0.06
R6281:Zswim8	UTSW	14	20,764,708 (GRCm39)	missense	probably benign	0.02
R6364:Zswim8	UTSW	14	20,763,079 (GRCm39)	missense	probably damaging	1.00
R6426:Zswim8	UTSW	14	20,768,594 (GRCm39)	missense	probably damaging	0.99
R6576:Zswim8	UTSW	14	20,771,942 (GRCm39)	missense	probably benign	0.41
R6798:Zswim8	UTSW	14	20,766,060 (GRCm39)	missense	probably damaging	1.00
R7059:Zswim8	UTSW	14	20,764,641 (GRCm39)	splice site	probably null
R7243:Zswim8	UTSW	14	20,764,436 (GRCm39)	missense	probably damaging	1.00
R7250:Zswim8	UTSW	14	20,770,036 (GRCm39)	missense	probably damaging	1.00
R7311:Zswim8	UTSW	14	20,771,552 (GRCm39)	missense	probably damaging	1.00
R7567:Zswim8	UTSW	14	20,770,001 (GRCm39)	missense	probably damaging	1.00
R7635:Zswim8	UTSW	14	20,766,368 (GRCm39)	missense	probably damaging	0.99
R7771:Zswim8	UTSW	14	20,763,048 (GRCm39)	missense	probably damaging	1.00
R7874:Zswim8	UTSW	14	20,773,217 (GRCm39)	missense	probably damaging	0.98
R7994:Zswim8	UTSW	14	20,758,072 (GRCm39)	missense	possibly damaging	0.95
R8466:Zswim8	UTSW	14	20,760,744 (GRCm39)	missense	possibly damaging	0.93
R9019:Zswim8	UTSW	14	20,761,119 (GRCm39)	missense	probably damaging	1.00
R9177:Zswim8	UTSW	14	20,761,908 (GRCm39)	missense	probably damaging	1.00
R9192:Zswim8	UTSW	14	20,769,588 (GRCm39)	missense	probably damaging	1.00
R9229:Zswim8	UTSW	14	20,766,393 (GRCm39)	missense	probably benign	0.45
R9268:Zswim8	UTSW	14	20,761,908 (GRCm39)	missense	probably damaging	1.00
R9562:Zswim8	UTSW	14	20,762,150 (GRCm39)	nonsense	probably null
R9589:Zswim8	UTSW	14	20,763,171 (GRCm39)	missense	probably damaging	0.99
R9621:Zswim8	UTSW	14	20,772,231 (GRCm39)	missense	probably benign	0.00
X0026:Zswim8	UTSW	14	20,760,700 (GRCm39)	splice site	probably null
X0028:Zswim8	UTSW	14	20,764,725 (GRCm39)	missense	probably benign	0.19
X0058:Zswim8	UTSW	14	20,763,058 (GRCm39)	missense	probably damaging	0.99
Z1177:Zswim8	UTSW	14	20,763,112 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGGTGAGTCTGGTGTTTCACAG -3'
(R):5'- CCTGGATGGCTGGAAACGTAGATG -3'

Sequencing Primer
(F):5'- GAACACTAGTTCATAGGGTTGC -3'
(R):5'- TGGATGGACACTGCTCACTG -3'

Posted On

2013-05-09