Mutagenetix > Incidental Mutation

Incidental Mutation 'R7440:Zswim2'

576869

Institutional Source

Beutler Lab

Gene Symbol

Zswim2

Ensembl Gene

ENSMUSG00000034552

Gene Name

zinc finger SWIM-type containing 2

Synonyms

4933437F18Rik, MEX, 1700025P14Rik

MMRRC Submission

045516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83745423-83771572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83751063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 259 (C259R)

Ref Sequence

ENSEMBL: ENSMUSP00000044913 (fasta)

Gene Model

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

AlphaFold

Q9D9X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038223
AA Change: C259R

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

SMART Domains

Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: C259R

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: C259R

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

SMART Domains

Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: C259R

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

Meta Mutation Damage Score

0.8286

Coding Region Coverage

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

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,628,626 (GRCm39)	T403I	probably damaging	Het
Adat1	A	T	8: 112,716,530 (GRCm39)	M64K	probably damaging	Het
Adcy2	C	T	13: 68,944,786 (GRCm39)	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,941,636 (GRCm39)	S508P	possibly damaging	Het
Ap1g1	T	A	8: 110,529,356 (GRCm39)		probably null	Het
Bicral	C	T	17: 47,136,710 (GRCm39)	G167R	probably damaging	Het
Ccser2	T	C	14: 36,620,174 (GRCm39)	K727E	possibly damaging	Het
Cep350	T	G	1: 155,816,518 (GRCm39)	K332N	probably damaging	Het
Cfap68	A	G	9: 50,676,213 (GRCm39)	V35A	probably benign	Het
Chd5	A	G	4: 152,469,108 (GRCm39)	N1811S	probably benign	Het
Chpf	A	T	1: 75,452,245 (GRCm39)	V565D	probably damaging	Het
Clcn6	A	T	4: 148,098,652 (GRCm39)	L489H	probably damaging	Het
Cntln	C	A	4: 84,981,453 (GRCm39)	T877K	possibly damaging	Het
Cog4	T	C	8: 111,606,338 (GRCm39)	V630A	probably benign	Het
Col6a5	G	T	9: 105,758,630 (GRCm39)	S2192*	probably null	Het
Cry2	G	A	2: 92,243,983 (GRCm39)	R397W	probably damaging	Het
Cstdc2	A	C	2: 148,688,911 (GRCm39)	C109W	probably damaging	Het
Cyp1b1	T	C	17: 80,020,986 (GRCm39)	N252S	probably damaging	Het
Dhx9	T	C	1: 153,356,977 (GRCm39)	I91V	probably benign	Het
Dnajb6	G	A	5: 29,962,857 (GRCm39)	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,266,619 (GRCm39)	Y121*	probably null	Het
Erlec1	T	C	11: 30,900,818 (GRCm39)	I117V	possibly damaging	Het
Exoc8	T	C	8: 125,622,520 (GRCm39)	M616V	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fuz	T	C	7: 44,545,996 (GRCm39)	L46P	probably damaging	Het
Insc	T	C	7: 114,444,278 (GRCm39)	S422P	possibly damaging	Het
Intu	A	G	3: 40,651,981 (GRCm39)	I813V	probably benign	Het
Jak3	T	A	8: 72,133,362 (GRCm39)	S352T	probably benign	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Lrrc63	T	C	14: 75,358,453 (GRCm39)	N400D	possibly damaging	Het
Lrrk1	T	C	7: 65,940,602 (GRCm39)	D760G	probably damaging	Het
Macf1	A	T	4: 123,349,239 (GRCm39)	L3976*	probably null	Het
Map7	C	T	10: 20,137,605 (GRCm39)	A259V	probably damaging	Het
Meioc	T	A	11: 102,565,063 (GRCm39)	D170E	possibly damaging	Het
Mgat5b	T	A	11: 116,859,271 (GRCm39)	Y34*	probably null	Het
Mgst1	A	G	6: 138,127,842 (GRCm39)	K68R	probably benign	Het
Miga1	T	A	3: 152,043,683 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,413 (GRCm39)	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,414,033 (GRCm39)	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 79,249,546 (GRCm39)	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,643,770 (GRCm39)	D57V	probably damaging	Het
Nlrp1a	T	C	11: 70,983,150 (GRCm39)	D1272G	probably damaging	Het
Oit3	T	C	10: 59,265,392 (GRCm39)	N291S	probably damaging	Het
Or1b1	A	T	2: 36,995,181 (GRCm39)	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,095,419 (GRCm39)	S251A	probably benign	Het
Polr1h	T	A	17: 37,268,736 (GRCm39)	L75F	probably benign	Het
Potefam3a	C	T	8: 20,356,948 (GRCm38)	S254N	unknown	Het
Ppfibp1	T	C	6: 146,921,001 (GRCm39)	S580P	probably benign	Het
Prdx6b	A	T	2: 80,123,560 (GRCm39)	D123V	probably damaging	Het
Ptprs	A	G	17: 56,731,256 (GRCm39)	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,065,110 (GRCm39)	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,031,065 (GRCm39)	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,429,054 (GRCm39)	V371A	probably benign	Het
Sfxn4	A	G	19: 60,830,642 (GRCm39)	L260P	possibly damaging	Het
Slc17a1	G	A	13: 24,062,466 (GRCm39)	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,452,918 (GRCm39)	V8M	probably damaging	Het
Smpd2	A	G	10: 41,365,012 (GRCm39)	I78T	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Syt17	A	T	7: 117,981,107 (GRCm39)	V462E	probably damaging	Het
Tlr11	T	A	14: 50,598,801 (GRCm39)	D262E	probably benign	Het
Tnfrsf9	T	C	4: 151,014,331 (GRCm39)	V10A	probably benign	Het
Trpv3	C	A	11: 73,168,800 (GRCm39)	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,094,281 (GRCm39)	Y170H	probably benign	Het
Urb1	A	G	16: 90,584,296 (GRCm39)	L562P	probably damaging	Het
Usp3	G	T	9: 66,437,537 (GRCm39)	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,055,556 (GRCm39)	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,694,539 (GRCm39)	Y436F	probably benign	Het
Vps13d	A	G	4: 144,854,981 (GRCm39)	I2220T		Het
Zfp936	T	A	7: 42,836,685 (GRCm39)	V32D	probably damaging	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
R1309:Zswim2	UTSW	2	83,769,100 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAAAGGGTTTGCATCCCCA -3'
(R):5'- CACAGCTGGGCCAACACTTT -3'

Sequencing Primer
(F):5'- TCCCCATAGGAGGACATAGGG -3'
(R):5'- GGACCCTCTGATAATCAATGGATGC -3'

Posted On

2019-10-07