Mutagenetix > Incidental Mutation

Incidental Mutation 'R9353:Zswim3'

708201

Institutional Source

Beutler Lab

Gene Symbol

Zswim3

Ensembl Gene

ENSMUSG00000045822

Gene Name

zinc finger SWIM-type containing 3

Synonyms

4921517A06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164647034-164664047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164662261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 247 (H247R)

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: H247R

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

SMART Domains

Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: H247R

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,517,890 (GRCm39)	V316D	possibly damaging	Het
Bhmt1b	A	G	18: 87,774,954 (GRCm39)	E159G	probably damaging	Het
Cc2d2a	T	C	5: 43,860,691 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,427,433 (GRCm39)	D1046G	probably damaging	Het
Ccl12	A	T	11: 81,993,437 (GRCm39)	D25V	possibly damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Ces3a	G	T	8: 105,776,547 (GRCm39)	R45L	probably benign	Het
Cntln	G	T	4: 84,802,597 (GRCm39)		probably benign	Het
Crybg3	C	A	16: 59,421,107 (GRCm39)		probably null	Het
Cxxc4	G	T	3: 133,945,913 (GRCm39)	G165C	unknown	Het
Dab2ip	G	A	2: 35,598,851 (GRCm39)	C181Y	probably damaging	Het
Dnah11	A	G	12: 118,143,434 (GRCm39)	V403A	probably benign	Het
Dnah12	T	C	14: 26,578,507 (GRCm39)	S3089P	probably damaging	Het
Dnajc13	A	T	9: 104,067,571 (GRCm39)	I1196N	probably benign	Het
Faiml	T	C	9: 99,116,462 (GRCm39)	Y76C	probably damaging	Het
Fam171b	T	A	2: 83,707,028 (GRCm39)	H299Q	probably benign	Het
Fbxo36	A	G	1: 84,874,259 (GRCm39)	N85S	probably benign	Het
Filip1	A	G	9: 79,725,623 (GRCm39)	F999L	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,211 (GRCm39)	S614R	possibly damaging	Het
Il18rap	A	G	1: 40,587,088 (GRCm39)	T457A	probably benign	Het
Inmt	C	T	6: 55,151,984 (GRCm39)		probably benign	Het
Kcnb1	C	T	2: 166,947,007 (GRCm39)	G614S	probably benign	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kdm5a	T	A	6: 120,404,730 (GRCm39)	V1324E	probably benign	Het
Lyn	A	T	4: 3,746,804 (GRCm39)	Y194F	possibly damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mier1	T	A	4: 103,012,800 (GRCm39)	H397Q	probably damaging	Het
Mov10l1	T	A	15: 88,872,622 (GRCm39)	D105E	possibly damaging	Het
Muc21	T	C	17: 35,930,545 (GRCm39)	T1214A	unknown	Het
Nav3	A	G	10: 109,554,065 (GRCm39)	S1766P	probably damaging	Het
Ncdn	T	A	4: 126,644,464 (GRCm39)	E119D	probably benign	Het
Nckipsd	C	A	9: 108,691,471 (GRCm39)	A416E	probably damaging	Het
Nek5	A	G	8: 22,563,961 (GRCm39)	V623A	probably benign	Het
Oas1g	A	G	5: 121,023,986 (GRCm39)	Y108H	possibly damaging	Het
Or13n4	T	C	7: 106,423,062 (GRCm39)	T224A	probably benign	Het
P2ry1	T	C	3: 60,911,916 (GRCm39)	S352P	probably damaging	Het
Pde6a	T	C	18: 61,390,382 (GRCm39)	F535S	probably damaging	Het
Pitpnb	T	C	5: 111,530,891 (GRCm39)	L228P	probably damaging	Het
Rbck1	G	T	2: 152,161,145 (GRCm39)	H368N	probably damaging	Het
Snrnp35	T	A	5: 124,628,559 (GRCm39)	V124E	probably damaging	Het
Spdye4a	C	T	5: 143,204,793 (GRCm39)	M224I	probably benign	Het
Stau1	A	G	2: 166,792,267 (GRCm39)	Y424H	probably damaging	Het
Sult1c2	A	T	17: 54,271,060 (GRCm39)	D190E	probably benign	Het
Thbs1	A	G	2: 117,953,051 (GRCm39)	D887G	probably damaging	Het
Tiam2	C	T	17: 3,558,074 (GRCm39)	Q1233*	probably null	Het
Tmem88	A	G	11: 69,288,939 (GRCm39)	V38A	probably damaging	Het
Vmn1r219	G	A	13: 23,346,902 (GRCm39)	M30I	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
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
R9527:Zswim3	UTSW	2	164,662,285 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTTACCGTGGACGAGGG -3'
(R):5'- TCTCCAAGAGACGAGTGGTG -3'

Sequencing Primer
(F):5'- CAATGGCCTCCTTCAGTGTGG -3'
(R):5'- CCAAGAGACGAGTGGTGTGGTAG -3'

Posted On

2022-04-18