Mutagenetix > Incidental Mutation

Incidental Mutation 'R1309:Zswim2'

157871

Institutional Source

Beutler Lab

Gene Symbol

Zswim2

Ensembl Gene

ENSMUSG00000034552

Gene Name

zinc finger SWIM-type containing 2

Synonyms

4933437F18Rik, MEX, 1700025P14Rik

MMRRC Submission

039375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1309 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83745423-83771572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83769100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 87 (F87Y)

Ref Sequence

ENSEMBL: ENSMUSP00000119439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038223] [ENSMUST00000152829]

AlphaFold

Q9D9X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038223
AA Change: F87Y

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

SMART Domains

Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: F87Y

Domain	Start	End	E-Value	Type
Pfam:SWIM	54	87	1.4e-7	PFAM
RING	147	198	8.3e-5	SMART
ZnF_ZZ	229	273	1.8e-5	SMART
RING	344	385	1.3e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000152829
AA Change: F87Y

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

SMART Domains

Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: F87Y

Domain	Start	End	E-Value	Type
Pfam:SWIM	54	87	1.6e-10	PFAM
RING	147	198	1.69e-2	SMART
ZnF_ZZ	229	273	3.65e-3	SMART
Blast:RING	344	365	3e-6	BLAST

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Angptl2	G	A	2: 33,136,140 (GRCm39)	A442T	probably benign	Het
Ankar	T	C	1: 72,713,163 (GRCm39)	I709V	possibly damaging	Het
Asb2	A	G	12: 103,291,667 (GRCm39)	V372A	probably benign	Het
Ccm2l	A	T	2: 152,912,844 (GRCm39)	I129F	probably damaging	Het
Cdkal1	T	A	13: 29,541,566 (GRCm39)	I433F	possibly damaging	Het
Cpsf7	T	C	19: 10,510,831 (GRCm39)		probably null	Het
Dhx37	C	T	5: 125,494,502 (GRCm39)	W944*	probably null	Het
Dip2a	A	G	10: 76,115,610 (GRCm39)	L939P	probably damaging	Het
Kera	A	G	10: 97,445,288 (GRCm39)	T216A	possibly damaging	Het
Lmnb1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	18: 56,872,976 (GRCm39)		probably null	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Prep	A	G	10: 45,002,122 (GRCm39)	T426A	probably benign	Het
Rxfp1	C	T	3: 79,570,599 (GRCm39)		probably null	Het
Spag6	A	G	2: 18,739,027 (GRCm39)	Y319C	probably damaging	Het
Stk24	A	G	14: 121,540,198 (GRCm39)	Y134H	probably damaging	Het
Tdrd6	T	C	17: 43,937,512 (GRCm39)	I1179V	probably benign	Het
Tedc1	A	G	12: 113,125,400 (GRCm39)	E274G	probably benign	Het

Other mutations in Zswim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Zswim2	APN	2	83,754,115 (GRCm39)	missense	probably benign	0.00
IGL01140:Zswim2	APN	2	83,745,672 (GRCm39)	missense	probably benign	0.06
IGL01362:Zswim2	APN	2	83,745,690 (GRCm39)	missense	probably benign	0.09
IGL01768:Zswim2	APN	2	83,748,301 (GRCm39)	missense	probably benign	0.00
IGL02166:Zswim2	APN	2	83,745,750 (GRCm39)	nonsense	probably null
IGL02187:Zswim2	APN	2	83,753,982 (GRCm39)	missense	probably damaging	0.98
IGL02239:Zswim2	APN	2	83,769,107 (GRCm39)	nonsense	probably null
IGL02629:Zswim2	APN	2	83,755,553 (GRCm39)	missense	possibly damaging	0.94
R0609:Zswim2	UTSW	2	83,754,003 (GRCm39)	missense	probably benign	0.02
R0943:Zswim2	UTSW	2	83,748,342 (GRCm39)	missense	possibly damaging	0.88
R0946:Zswim2	UTSW	2	83,754,103 (GRCm39)	missense	probably benign	0.10
R1006:Zswim2	UTSW	2	83,745,737 (GRCm39)	missense	probably damaging	0.97
R1191:Zswim2	UTSW	2	83,754,039 (GRCm39)	missense	possibly damaging	0.60
R1549:Zswim2	UTSW	2	83,754,092 (GRCm39)	missense	probably benign	0.24
R1563:Zswim2	UTSW	2	83,745,626 (GRCm39)	missense	possibly damaging	0.71
R1739:Zswim2	UTSW	2	83,745,684 (GRCm39)	nonsense	probably null
R1994:Zswim2	UTSW	2	83,746,007 (GRCm39)	missense	possibly damaging	0.95
R4039:Zswim2	UTSW	2	83,746,338 (GRCm39)	missense	probably damaging	1.00
R4645:Zswim2	UTSW	2	83,745,891 (GRCm39)	missense	probably benign	0.00
R4738:Zswim2	UTSW	2	83,745,739 (GRCm39)	missense	probably benign	0.16
R4855:Zswim2	UTSW	2	83,747,187 (GRCm39)	critical splice donor site	probably null
R4933:Zswim2	UTSW	2	83,755,571 (GRCm39)	missense	probably damaging	1.00
R4963:Zswim2	UTSW	2	83,755,454 (GRCm39)	missense	probably damaging	1.00
R5153:Zswim2	UTSW	2	83,770,010 (GRCm39)	missense	possibly damaging	0.75
R5401:Zswim2	UTSW	2	83,755,589 (GRCm39)	missense	possibly damaging	0.94
R5698:Zswim2	UTSW	2	83,755,527 (GRCm39)	missense	possibly damaging	0.92
R6002:Zswim2	UTSW	2	83,746,032 (GRCm39)	missense	probably damaging	0.98
R6396:Zswim2	UTSW	2	83,754,062 (GRCm39)	missense	probably damaging	1.00
R6447:Zswim2	UTSW	2	83,745,457 (GRCm39)	splice site	probably null
R6646:Zswim2	UTSW	2	83,746,128 (GRCm39)	nonsense	probably null
R6717:Zswim2	UTSW	2	83,745,753 (GRCm39)	missense	probably benign	0.02
R6735:Zswim2	UTSW	2	83,754,105 (GRCm39)	missense	probably benign	0.04
R6830:Zswim2	UTSW	2	83,770,028 (GRCm39)	missense	probably damaging	1.00
R7056:Zswim2	UTSW	2	83,751,092 (GRCm39)	critical splice acceptor site	probably null
R7088:Zswim2	UTSW	2	83,746,071 (GRCm39)	nonsense	probably null
R7383:Zswim2	UTSW	2	83,745,672 (GRCm39)	missense	possibly damaging	0.95
R7440:Zswim2	UTSW	2	83,751,063 (GRCm39)	missense	probably damaging	1.00
R7747:Zswim2	UTSW	2	83,745,951 (GRCm39)	missense	probably damaging	0.97
R7955:Zswim2	UTSW	2	83,747,227 (GRCm39)	missense	probably benign	0.00
R7983:Zswim2	UTSW	2	83,753,911 (GRCm39)	critical splice donor site	probably null
R8765:Zswim2	UTSW	2	83,771,431 (GRCm39)	missense	probably damaging	1.00
R9295:Zswim2	UTSW	2	83,748,304 (GRCm39)	missense	probably benign	0.00
R9465:Zswim2	UTSW	2	83,746,275 (GRCm39)	missense	probably benign	0.21
X0018:Zswim2	UTSW	2	83,771,438 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- tgctgaaccagctcTGTAGTCCTC -3'
(R):5'- ACTGGCAATGCCTGACATTCTTCAC -3'

Sequencing Primer
(F):5'- ccagctcTGTAGTCCTCATCTAAG -3'
(R):5'- TAATCAGGCCCTTGAGCATGAC -3'

Posted On

2014-02-18