Mutagenetix > Incidental Mutation

Incidental Mutation 'R9589:Zswim8'

722944

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 #

R9589 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20707552-20723619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20713103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 357 (M357V)

Ref Sequence

ENSEMBL: ENSMUSP00000022358 (fasta)

Gene Model

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

AlphaFold

Q3UHH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022358
AA Change: M357V

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

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: M357V

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

possibly damaging
Transcript: ENSMUST00000223840
AA Change: M357V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224129

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224751
AA Change: M357V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,033,465	D104G	possibly damaging	Het
Ahnak2	G	T	12: 112,782,728	D1166E		Het
C2cd3	T	A	7: 100,432,549	S1133T		Het
Ccdc17	A	G	4: 116,597,594	Q168R	probably benign	Het
Fn1	A	T	1: 71,629,782	I668N	probably damaging	Het
Fyb2	C	A	4: 105,015,636	N735K	probably damaging	Het
Gad1	T	C	2: 70,585,940	S248P	possibly damaging	Het
Gcnt1	G	A	19: 17,330,058	A101V	probably benign	Het
Herc1	T	A	9: 66,465,558	M3132K	possibly damaging	Het
Htra3	T	C	5: 35,664,065	I323V	probably damaging	Het
Ighv11-2	A	T	12: 114,048,427	V56D	probably damaging	Het
Itga8	C	T	2: 12,232,890	G340R	probably damaging	Het
Kcnk15	C	T	2: 163,858,207	T122M	probably damaging	Het
Kif13a	G	T	13: 46,802,544	Q658K	probably benign	Het
Kif13b	T	C	14: 64,776,310	I1303T	possibly damaging	Het
Kifc3	A	T	8: 95,134,744	S94R	possibly damaging	Het
Lrrc63	A	T	14: 75,084,939	F575Y	possibly damaging	Het
Map1a	T	C	2: 121,305,917	S2405P	probably damaging	Het
Map2	A	G	1: 66,410,594	T159A	probably benign	Het
Mgam	A	T	6: 40,750,585	I1315F	probably damaging	Het
Olfr33	T	C	7: 102,714,165	T83A	probably damaging	Het
Pah	T	A	10: 87,567,335	F191I	probably damaging	Het
Plekhh2	G	A	17: 84,547,490	D51N	possibly damaging	Het
Ppp4r2	C	T	6: 100,861,448	T109M	probably damaging	Het
Rfx7	T	C	9: 72,617,840	S771P	possibly damaging	Het
Sec11a	T	C	7: 80,916,151	*171W	probably null	Het
Secisbp2l	C	A	2: 125,747,505	V708L	probably benign	Het
Secisbp2l	T	G	2: 125,747,510	D706A	probably damaging	Het
Shpk	C	T	11: 73,213,441	P139S	possibly damaging	Het
Slc6a18	A	G	13: 73,668,204	L352P	possibly damaging	Het
Slitrk3	T	C	3: 73,050,648	T264A	probably benign	Het
Smg9	T	G	7: 24,420,821	S407A	probably damaging	Het
Stmn4	A	G	14: 66,357,889	E121G	probably damaging	Het
Tmem237	G	A	1: 59,119,987	P10S	probably benign	Het
Vmn2r73	A	G	7: 85,870,451	I433T	probably benign	Het
Zfp28	T	A	7: 6,389,817	M164K	probably benign	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
R9562:Zswim8	UTSW	14	20712082	nonsense	probably null
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'- TACCTCCTTCAGTCAGCAGC -3'
(R):5'- TGAGGTGCGCACACTATACC -3'

Sequencing Primer
(F):5'- GTCAGCAGCCCCACCTTAGTC -3'
(R):5'- CAGCCTGTTATCTGGAGGCAAAG -3'

Posted On

2022-08-09