Mutagenetix > Incidental Mutation

Incidental Mutation 'R4438:Zswim3'

329606

Institutional Source

Beutler Lab

Gene Symbol

Zswim3

Ensembl Gene

ENSMUSG00000045822

Gene Name

zinc finger SWIM-type containing 3

Synonyms

4921517A06Rik

MMRRC Submission

041703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164647034-164664047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164662563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 348 (C348S)

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 benign
Transcript: ENSMUST00000052107
AA Change: C348S

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

SMART Domains

Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: C348S

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

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,367,739 (GRCm39)	I141F	probably benign	Het
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
Adck1	C	T	12: 88,397,920 (GRCm39)	Q185*	probably null	Het
Adgrb3	T	C	1: 25,870,108 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,466 (GRCm39)	S105P	probably damaging	Het
Asns	C	A	6: 7,675,320 (GRCm39)	A561S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Bst1	A	T	5: 43,982,682 (GRCm39)		probably null	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Csnk1e	A	T	15: 79,305,129 (GRCm39)	S323T	probably benign	Het
Cyp2j7	G	T	4: 96,105,646 (GRCm39)	T288K	probably benign	Het
Dnaaf5	T	A	5: 139,149,147 (GRCm39)	I482N	probably damaging	Het
Dpy19l3	A	G	7: 35,392,284 (GRCm39)	I636T	probably damaging	Het
Enpep	T	G	3: 129,077,740 (GRCm39)	T626P	possibly damaging	Het
Fgfr2	G	A	7: 129,774,660 (GRCm39)	R509*	probably null	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gpr83	T	C	9: 14,776,134 (GRCm39)	Y152H	probably damaging	Het
Hdac7	T	C	15: 97,705,596 (GRCm39)	E400G	probably damaging	Het
Hypk	A	T	2: 121,288,475 (GRCm39)	E82V	probably damaging	Het
Iqub	C	A	6: 24,505,867 (GRCm39)	A14S	probably benign	Het
Lias	T	C	5: 65,552,787 (GRCm39)	M130T	probably damaging	Het
Lingo4	T	C	3: 94,310,204 (GRCm39)	S381P	possibly damaging	Het
Mdn1	A	G	4: 32,704,635 (GRCm39)	T1536A	probably damaging	Het
Moxd2	T	A	6: 40,860,996 (GRCm39)	D265V	probably damaging	Het
Mtbp	C	A	15: 55,466,611 (GRCm39)	S541R	probably benign	Het
Or10j27	C	A	1: 172,957,869 (GRCm39)	C305F	probably benign	Het
Or2a54	T	C	6: 43,093,221 (GRCm39)	S182P	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pcsk9	G	T	4: 106,316,156 (GRCm39)	Q96K	probably benign	Het
Pramel14	T	C	4: 143,718,192 (GRCm39)	Y417C	probably damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Setd1a	A	G	7: 127,384,903 (GRCm39)	N585D	possibly damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Smarcal1	T	C	1: 72,650,637 (GRCm39)		probably benign	Het
Snx19	G	T	9: 30,339,895 (GRCm39)	L344F	probably benign	Het
Srfbp1	T	C	18: 52,621,403 (GRCm39)	C155R	probably benign	Het
Sspo	C	T	6: 48,464,287 (GRCm39)	R3914C	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tmub1	A	C	5: 24,651,068 (GRCm39)	L197R	probably damaging	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Tnfrsf21	G	T	17: 43,398,733 (GRCm39)	R613L	possibly damaging	Het
Ugt3a1	A	T	15: 9,351,283 (GRCm39)	E97D	probably benign	Het
Vmn2r25	A	G	6: 123,816,756 (GRCm39)	I275T	probably benign	Het
Zfp1010	T	G	2: 176,956,889 (GRCm39)	Q203P	possibly damaging	Het
Zfp568	G	T	7: 29,721,721 (GRCm39)	C221F	probably benign	Het
Zfp91	C	A	19: 12,755,385 (GRCm39)	E217*	probably null	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
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
R8308:Zswim3	UTSW	2	164,663,566 (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'- TTCAACTCTGATTGGCCCAAG -3'
(R):5'- AAGAGGCTTGACACCTTGC -3'

Sequencing Primer
(F):5'- CCGAGCGATCTTACAGGAGATCTTC -3'
(R):5'- CTGGTGACTATGTCTAGGCTGTCC -3'

Posted On

2015-07-21