Mutagenetix > Incidental Mutation

Incidental Mutation 'R9562:Zswim8'

721137

Institutional Source

Beutler Lab

Gene Symbol

Zswim8

Ensembl Gene

ENSMUSG00000021819

Gene Name

zinc finger SWIM-type containing 8

Synonyms

2310021P13Rik, 4832404P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 20712082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 262 (Q262*)

Ref Sequence

ENSEMBL: ENSMUSP00000022358 (fasta)

Gene Model

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

AlphaFold

Q3UHH1

Predicted Effect

probably null
Transcript: ENSMUST00000022358
AA Change: Q262*

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: Q262*

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 null
Transcript: ENSMUST00000223840
AA Change: Q262*

Predicted Effect

probably benign
Transcript: ENSMUST00000224129

Predicted Effect

probably null
Transcript: ENSMUST00000224751
AA Change: Q262*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,930,975	M303T	probably benign	Het
2310035C23Rik	T	C	1: 105,664,151	V15A	probably damaging	Het
Acacb	C	A	5: 114,233,336	P1842Q	probably damaging	Het
Aco2	G	A	15: 81,889,434	R58Q	probably null	Het
Acvr1	T	C	2: 58,448,373	K446E	probably damaging	Het
Adam39	T	C	8: 40,824,718	Y49H	probably benign	Het
Afg3l2	C	T	18: 67,421,295	V446M	probably damaging	Het
Aire	A	G	10: 78,035,745	V397A	probably benign	Het
Ankdd1a	C	T	9: 65,504,170	A352T	possibly damaging	Het
Arfip2	T	C	7: 105,636,872	D270G	possibly damaging	Het
Arl4c	A	G	1: 88,701,412	C85R	probably damaging	Het
Arpp21	A	C	9: 112,127,286	V541G	possibly damaging	Het
Atp2a3	T	A	11: 72,982,752	M817K	probably damaging	Het
Bahcc1	C	T	11: 120,259,209	H106Y	possibly damaging	Het
BC067074	T	C	13: 113,368,040	I1901T		Het
Bcl9l	A	G	9: 44,500,779	S21G	possibly damaging	Het
C7	T	A	15: 5,057,097		probably null	Het
Cabcoco1	T	C	10: 68,436,895	D220G	possibly damaging	Het
Cacna1e	T	A	1: 154,407,740	D1960V	probably benign	Het
Casp4	A	T	9: 5,324,832	T215S	probably damaging	Het
Ccdc187	T	C	2: 26,293,686	S101G	possibly damaging	Het
Cdk12	A	G	11: 98,249,802	N1290D	unknown	Het
Cdo1	C	A	18: 46,728,037	V36L	probably benign	Het
Col5a3	G	A	9: 20,803,133	A381V	unknown	Het
Dcpp2	A	G	17: 23,900,479	E89G	probably damaging	Het
Dhx57	G	T	17: 80,254,388	A899E	probably damaging	Het
Dnaaf1	T	C	8: 119,582,653	I160T	probably damaging	Het
Dnah1	C	A	14: 31,264,437	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,875,324	R3547S	possibly damaging	Het
Dnah3	A	G	7: 120,010,891	V1774A	probably benign	Het
Dopey1	G	A	9: 86,542,758	R2085Q	probably damaging	Het
Duox1	T	C	2: 122,320,722	Y293H	probably damaging	Het
Efcab5	G	A	11: 77,132,108	T593I	probably damaging	Het
Epas1	T	A	17: 86,805,239	D88E	probably damaging	Het
Epdr1	A	G	13: 19,594,651	F92L	possibly damaging	Het
Ercc6	T	C	14: 32,574,967	W1305R	probably damaging	Het
Etv6	A	G	6: 134,248,709	N212S	probably benign	Het
Fam208a	T	C	14: 27,479,809		probably null	Het
Fam20b	A	T	1: 156,702,440	Y141*	probably null	Het
Fancm	A	G	12: 65,121,720	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,768,463	N183K	probably damaging	Het
Fer1l6	A	G	15: 58,618,521	D976G	possibly damaging	Het
Fgb	T	C	3: 83,045,102		probably null	Het
Fhod1	A	T	8: 105,347,790	Y22N	unknown	Het
Galm	C	T	17: 80,183,430	Q166*	probably null	Het
Gbe1	A	T	16: 70,401,776	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,451,260	Y369F	probably damaging	Het
Gdap2	T	C	3: 100,191,690	I366T	possibly damaging	Het
Gm11236	G	T	4: 73,638,953	V8F	probably damaging	Het
Gm14295	T	C	2: 176,807,369	V4A	probably benign	Het
Gm32742	T	A	9: 51,157,027	Y249F	probably benign	Het
Gm40460	A	T	7: 142,240,964	C39S	unknown	Het
Gm5294	C	A	5: 138,821,458	Q164K	probably benign	Het
Gm6370	T	A	5: 146,492,471	C120*	probably null	Het
Harbi1	T	A	2: 91,712,353	L53*	probably null	Het
Herc3	A	G	6: 58,859,014	N280S	probably null	Het
Hipk2	T	A	6: 38,747,455	R447W	probably damaging	Het
Hydin	A	G	8: 110,586,154	I4176V	probably benign	Het
Ifi211	A	T	1: 173,905,486	I203N	probably benign	Het
Ikbkap	G	T	4: 56,772,521	P867T	probably benign	Het
Kcnc1	G	A	7: 46,427,586	V271M	probably benign	Het
Kcng1	T	A	2: 168,262,877	I350F	probably damaging	Het
Kif21b	A	T	1: 136,149,352	I371F	probably damaging	Het
Klrc1	A	G	6: 129,678,783	F43S	probably damaging	Het
Krtap6-2	A	G	16: 89,419,834	S82P	unknown	Het
Lamb1	T	A	12: 31,272,493	M186K	probably damaging	Het
Lrig2	T	C	3: 104,468,608	K451E	possibly damaging	Het
Lrrc15	G	A	16: 30,274,198	L108F	probably damaging	Het
Mark3	A	G	12: 111,604,526	I87V	probably damaging	Het
Mgea5	CTCGGGTC	CTC	19: 45,754,657		probably null	Het
Mlh1	T	C	9: 111,230,945	K622E		Het
Mrgprb2	G	A	7: 48,552,926	T17M	possibly damaging	Het
Mtmr4	C	T	11: 87,602,415	R225C	probably damaging	Het
Nfatc1	A	G	18: 80,635,701	L824P	probably damaging	Het
Nlrp4f	A	T	13: 65,199,239	D46E	probably damaging	Het
Olfr1564	G	T	17: 33,215,441	T301N	probably benign	Het
Olfr225	T	A	11: 59,613,754	N263K	probably damaging	Het
Olfr365	G	T	2: 37,201,563	M107I	probably benign	Het
Olfr5	G	C	7: 6,480,244	A304G	probably null	Het
Olfr702	A	C	7: 106,823,813	F238V	probably damaging	Het
Olfr866	T	A	9: 20,027,749	Y63F	probably damaging	Het
Olfr906	G	T	9: 38,488,796	A256S	possibly damaging	Het
Otulin	A	G	15: 27,608,726	Y244H	probably damaging	Het
Pabpc4	T	C	4: 123,286,860	I125T	probably damaging	Het
Parp14	A	G	16: 35,857,405	I731T	probably benign	Het
Parp8	T	C	13: 116,893,095	T531A	probably benign	Het
Parvg	G	T	15: 84,328,864	V49L	probably benign	Het
Pcdha12	T	C	18: 37,022,231	S668P	probably damaging	Het
Pcdhb9	A	C	18: 37,401,612	N220H	probably benign	Het
Pcdhga4	T	G	18: 37,686,474	S359A	probably benign	Het
Pi4k2b	T	A	5: 52,751,457	S208R	probably damaging	Het
Plxnb2	T	C	15: 89,165,933	Y487C	probably damaging	Het
Pm20d1	G	A	1: 131,802,763	V252I	probably damaging	Het
Pxdc1	T	A	13: 34,652,275	H54L	probably damaging	Het
Rag1	A	T	2: 101,642,982	V605E	probably damaging	Het
Rasgrf2	A	T	13: 91,886,350		probably null	Het
Rflnb	T	A	11: 76,022,125	T146S	probably damaging	Het
Rfx5	T	A	3: 94,959,328	L646Q	unknown	Het
Rnf43	A	G	11: 87,728,065	T81A	probably benign	Het
Ros1	T	C	10: 52,067,074	D2048G	probably damaging	Het
Rpl13a-ps1	T	A	19: 50,030,173	K188I	possibly damaging	Het
Rpl24	T	A	16: 55,970,146	S122T	probably benign	Het
Ryr2	G	A	13: 11,745,218	T1549M	probably damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sec23a	A	T	12: 59,002,031	F131I	possibly damaging	Het
Secisbp2	T	C	13: 51,683,284	I827T	probably damaging	Het
Serpinb6d	A	G	13: 33,670,773	R244G	probably benign	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Snx17	C	A	5: 31,197,744	Q368K	probably damaging	Het
Stac	T	A	9: 111,572,343	E345V	probably benign	Het
Stx4a	A	G	7: 127,846,203	N164S	possibly damaging	Het
Tbcb	A	T	7: 30,231,124		probably null	Het
Tecpr2	T	C	12: 110,947,707	S1151P	possibly damaging	Het
Timm50	A	G	7: 28,307,644	F202S	possibly damaging	Het
Tle2	A	G	10: 81,581,733	D244G	probably benign	Het
Tlr4	G	A	4: 66,841,285	V772I	possibly damaging	Het
Tmem214	G	A	5: 30,869,699	W11*	probably null	Het
Tmem241	A	T	18: 12,043,299	L227*	probably null	Het
Top2b	A	C	14: 16,365,718	T14P	probably benign	Het
Trim44	T	C	2: 102,357,482	T309A	probably benign	Het
Trps1	A	C	15: 50,661,261	I1091S	probably damaging	Het
Tspan2	C	A	3: 102,765,267	T200K	probably damaging	Het
Tuba8	A	G	6: 121,223,104	N249S	probably benign	Het
Vmn1r189	A	G	13: 22,102,256	L137P	probably damaging	Het
Vmn2r29	A	T	7: 7,241,856	W340R	probably benign	Het
Vmn2r52	A	C	7: 10,159,549	D554E	probably benign	Het
Zc3h4	C	G	7: 16,434,966	P1075R	unknown	Het
Zfp599	A	G	9: 22,249,703	S389P	probably damaging	Het
Zfp777	A	T	6: 48,044,646	V14D	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
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
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'- CAGTACCTTATCAGTGAGCTTCC -3'
(R):5'- AAGTGCTCTGGTCTGAAGCTG -3'

Sequencing Primer
(F):5'- CTTCCTCAGCAGGTGGGTG -3'
(R):5'- CTCTGGTCTGAAGCTGAGGGC -3'

Posted On

2022-08-09