Mutagenetix > Incidental Mutation

Incidental Mutation 'R8308:Zswim3'

641179

Institutional Source

Beutler Lab

Gene Symbol

Zswim3

Ensembl Gene

ENSMUSG00000045822

Gene Name

zinc finger SWIM-type containing 3

Synonyms

4921517A06Rik

MMRRC Submission

067793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164647034-164664047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164663566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 682 (E682G)

Ref Sequence

ENSEMBL: ENSMUSP00000050970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017908] [ENSMUST00000052107] [ENSMUST00000132282]

AlphaFold

Q8CFL8

Predicted Effect

probably benign
Transcript: ENSMUST00000017908

SMART Domains

Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764

Domain	Start	End	E-Value	Type
Pfam:SWIM	342	375	2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000052107
AA Change: E682G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: E682G

Domain	Start	End	E-Value	Type
low complexity region	436	453	N/A	INTRINSIC
low complexity region	474	489	N/A	INTRINSIC
ZnF_PMZ	546	573	2.09e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132282

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,570 (GRCm39)	D341G	probably damaging	Het
Abca17	T	C	17: 24,486,657 (GRCm39)	T1457A	probably damaging	Het
Acot8	A	T	2: 164,646,663 (GRCm39)	S25R	probably benign	Het
Ap2a2	T	C	7: 141,210,212 (GRCm39)	V850A	probably benign	Het
Baiap2l1	T	A	5: 144,214,487 (GRCm39)	E402D	probably benign	Het
Bptf	T	C	11: 106,943,815 (GRCm39)	K2689E	probably damaging	Het
Cdh22	C	A	2: 164,954,098 (GRCm39)	D808Y	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cipc	A	G	12: 87,008,809 (GRCm39)	T223A	probably benign	Het
Crem	G	T	18: 3,295,397 (GRCm39)	T57K	possibly damaging	Het
Cyp17a1	T	A	19: 46,656,516 (GRCm39)	I393F	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock3	C	A	9: 106,790,371 (GRCm39)	V1451L	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Ece1	T	C	4: 137,664,075 (GRCm39)	V224A	probably damaging	Het
Flg	A	T	3: 93,190,586 (GRCm39)	S152C	unknown	Het
Gcsam	A	T	16: 45,430,902 (GRCm39)	N3I	probably damaging	Het
Gm10188	C	T	1: 132,157,310 (GRCm39)	V19I	unknown	Het
Gpr27	T	C	6: 99,670,217 (GRCm39)	L193P	probably damaging	Het
Grin2b	A	T	6: 135,900,074 (GRCm39)	V269E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kif14	A	G	1: 136,443,651 (GRCm39)	I1275V	possibly damaging	Het
Krt27	T	C	11: 99,239,862 (GRCm39)	E234G	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Matk	T	G	10: 81,094,121 (GRCm39)	S18A	probably benign	Het
Mbd3l1	A	G	9: 18,395,886 (GRCm39)	T4A	probably benign	Het
Mettl23	G	A	11: 116,739,185 (GRCm39)		probably null	Het
Ncam1	A	T	9: 49,479,817 (GRCm39)	W54R	probably damaging	Het
Olfm5	A	G	7: 103,803,606 (GRCm39)	Y286H	probably damaging	Het
Or10d5j	T	A	9: 39,868,265 (GRCm39)	M1L	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or4q3	T	C	14: 50,582,922 (GRCm39)	I326V	probably benign	Het
Or5ac15	C	T	16: 58,939,899 (GRCm39)	C178Y	probably damaging	Het
Pmch	A	G	10: 87,927,614 (GRCm39)	Y105C	probably damaging	Het
Prg3	A	G	2: 84,819,676 (GRCm39)	T57A	probably benign	Het
Ptpn13	A	G	5: 103,688,838 (GRCm39)	E877G	probably damaging	Het
Ptprt	A	G	2: 161,769,566 (GRCm39)	V433A	probably benign	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Scara5	C	T	14: 65,927,234 (GRCm39)	R44W	probably damaging	Het
Scg2	T	G	1: 79,414,576 (GRCm39)	K49T	probably benign	Het
Slc40a1	A	G	1: 45,950,180 (GRCm39)	I424T	probably benign	Het
Slc4a8	T	A	15: 100,693,735 (GRCm39)	S479T	probably damaging	Het
Sorl1	T	C	9: 41,929,456 (GRCm39)	D1139G	probably damaging	Het
Srcap	A	G	7: 127,152,353 (GRCm39)	I2206V	possibly damaging	Het
Tpk1	T	C	6: 43,642,711 (GRCm39)	E9G	probably benign	Het
Ttn	C	T	2: 76,642,645 (GRCm39)	V13297I	possibly damaging	Het
Uchl3	T	C	14: 101,932,655 (GRCm39)		probably null	Het
Usp12	T	C	5: 146,688,751 (GRCm39)	D201G	probably damaging	Het
Vmn1r193	C	T	13: 22,403,146 (GRCm39)	R282H	probably benign	Het
Vmn2r104	T	C	17: 20,261,040 (GRCm39)	D461G	possibly damaging	Het
Zfp131	A	G	13: 120,244,440 (GRCm39)	M80T	possibly damaging	Het
Zfp457	A	G	13: 67,441,663 (GRCm39)	L304P	probably benign	Het

Other mutations in Zswim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Zswim3	APN	2	164,663,011 (GRCm39)	missense	probably damaging	1.00
IGL01345:Zswim3	APN	2	164,662,057 (GRCm39)	missense	probably damaging	1.00
IGL01608:Zswim3	APN	2	164,663,440 (GRCm39)	missense	probably damaging	1.00
IGL01621:Zswim3	APN	2	164,663,440 (GRCm39)	missense	probably damaging	1.00
IGL01634:Zswim3	APN	2	164,661,922 (GRCm39)	missense	probably damaging	0.99
IGL02165:Zswim3	APN	2	164,663,035 (GRCm39)	missense	possibly damaging	0.94
IGL02173:Zswim3	APN	2	164,662,759 (GRCm39)	missense	probably damaging	1.00
IGL02336:Zswim3	APN	2	164,662,297 (GRCm39)	missense	probably damaging	0.98
IGL02379:Zswim3	APN	2	164,662,602 (GRCm39)	splice site	probably null
R0321:Zswim3	UTSW	2	164,662,279 (GRCm39)	missense	possibly damaging	0.83
R1489:Zswim3	UTSW	2	164,661,901 (GRCm39)	missense	probably benign	0.00
R2126:Zswim3	UTSW	2	164,661,913 (GRCm39)	missense	probably benign	0.31
R2176:Zswim3	UTSW	2	164,662,614 (GRCm39)	missense	probably benign	0.08
R2859:Zswim3	UTSW	2	164,662,309 (GRCm39)	missense	probably damaging	1.00
R3853:Zswim3	UTSW	2	164,662,777 (GRCm39)	missense	possibly damaging	0.61
R4434:Zswim3	UTSW	2	164,662,563 (GRCm39)	missense	probably benign	0.00
R4435:Zswim3	UTSW	2	164,662,563 (GRCm39)	missense	probably benign	0.00
R4436:Zswim3	UTSW	2	164,662,563 (GRCm39)	missense	probably benign	0.00
R4438:Zswim3	UTSW	2	164,662,563 (GRCm39)	missense	probably benign	0.00
R4805:Zswim3	UTSW	2	164,662,099 (GRCm39)	missense	possibly damaging	0.52
R5874:Zswim3	UTSW	2	164,662,032 (GRCm39)	missense	probably benign	0.06
R6417:Zswim3	UTSW	2	164,662,653 (GRCm39)	missense	probably damaging	0.97
R6420:Zswim3	UTSW	2	164,662,653 (GRCm39)	missense	probably damaging	0.97
R6722:Zswim3	UTSW	2	164,662,544 (GRCm39)	splice site	probably null
R6786:Zswim3	UTSW	2	164,662,771 (GRCm39)	missense	probably damaging	1.00
R7266:Zswim3	UTSW	2	164,662,402 (GRCm39)	missense	probably benign	0.41
R7467:Zswim3	UTSW	2	164,661,795 (GRCm39)	missense	possibly damaging	0.59
R7487:Zswim3	UTSW	2	164,662,135 (GRCm39)	missense	probably damaging	0.99
R7788:Zswim3	UTSW	2	164,661,699 (GRCm39)	missense	probably damaging	1.00
R8191:Zswim3	UTSW	2	164,662,128 (GRCm39)	missense	probably damaging	1.00
R8794:Zswim3	UTSW	2	164,662,687 (GRCm39)	missense	probably damaging	0.98
R9353:Zswim3	UTSW	2	164,662,261 (GRCm39)	missense	probably damaging	1.00
R9527:Zswim3	UTSW	2	164,662,285 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCACATGATTCGGGACC -3'
(R):5'- GGATTGTCACAGTGGAGTCC -3'

Sequencing Primer
(F):5'- ACATGATTCGGGACCTAAGC -3'
(R):5'- GATTGTCACAGTGGAGTCCCTCTC -3'

Posted On

2020-07-28