Mutagenetix > Incidental Mutation

Incidental Mutation 'R8433:Zswim5'

653850

Institutional Source

Beutler Lab

Gene Symbol

Zswim5

Ensembl Gene

ENSMUSG00000033948

Gene Name

zinc finger SWIM-type containing 5

Synonyms

4933426E21Rik

MMRRC Submission

067823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8433 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116734573-116846461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116844007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1015 (Y1015C)

Ref Sequence

ENSEMBL: ENSMUSP00000049474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000044823] [ENSMUST00000130273]

AlphaFold

Q80TC6

Predicted Effect

probably benign
Transcript: ENSMUST00000030446

SMART Domains

Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684

Domain	Start	End	E-Value	Type
Pfam:URO-D	14	360	2.4e-135	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044823
AA Change: Y1015C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: Y1015C

Domain	Start	End	E-Value	Type
low complexity region	35	56	N/A	INTRINSIC
low complexity region	119	182	N/A	INTRINSIC
low complexity region	692	708	N/A	INTRINSIC
low complexity region	982	995	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130273

SMART Domains

Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684

Domain	Start	End	E-Value	Type
Pfam:URO-D	1	64	1.2e-18	PFAM
Pfam:URO-D	60	120	4e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh1	A	G	4: 117,085,535 (GRCm39)	V227A	probably benign	Het
Cfhr1	A	T	1: 139,485,276 (GRCm39)	Y57N	probably damaging	Het
Chtf18	A	G	17: 25,945,918 (GRCm39)	S90P	probably benign	Het
Eral1	A	G	11: 77,966,309 (GRCm39)	S290P	probably benign	Het
Foxk1	T	C	5: 142,434,539 (GRCm39)	F268L	probably benign	Het
Gsta3	A	G	1: 21,335,172 (GRCm39)	K218E	probably benign	Het
Mapk8ip2	G	A	15: 89,342,069 (GRCm39)	A427T	probably benign	Het
Mtch2	T	A	2: 90,677,505 (GRCm39)		probably benign	Het
Ndufc1	A	G	3: 51,316,311 (GRCm39)	L14P	probably damaging	Het
Or55b4	A	T	7: 102,133,991 (GRCm39)	I112N	probably benign	Het
Or56a3b	T	C	7: 104,770,931 (GRCm39)	F89S	probably damaging	Het
Or8k53	G	A	2: 86,177,144 (GRCm39)	P322L	unknown	Het
Parn	C	A	16: 13,485,413 (GRCm39)	D28Y	probably damaging	Het
Phldb1	C	T	9: 44,627,759 (GRCm39)	G229R	probably damaging	Het
Prpf3	A	G	3: 95,758,963 (GRCm39)	V63A	probably damaging	Het
Ptger3	A	C	3: 157,349,592 (GRCm39)	*363C	probably null	Het
Rnf6	A	G	5: 146,148,088 (GRCm39)	V310A	probably damaging	Het
Scarf1	G	A	11: 75,411,858 (GRCm39)		probably null	Het
Slc5a6	G	A	5: 31,194,806 (GRCm39)	A530V	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Svop	A	G	5: 114,170,822 (GRCm39)	C406R	probably benign	Het
Tnn	G	A	1: 159,924,790 (GRCm39)	S1452L	possibly damaging	Het
Tpx2	A	G	2: 152,722,056 (GRCm39)	E216G	probably damaging	Het
Trim39	A	G	17: 36,571,597 (GRCm39)	V387A	possibly damaging	Het
Unc80	A	T	1: 66,677,187 (GRCm39)	K2039*	probably null	Het
Vps13a	A	T	19: 16,718,600 (GRCm39)	L464I	possibly damaging	Het
Wdr35	G	A	12: 9,058,495 (GRCm39)	D562N	probably damaging	Het
Zfp541	C	T	7: 15,805,999 (GRCm39)	L45F	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Zswim5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Zswim5	APN	4	116,842,933 (GRCm39)	missense	possibly damaging	0.93
IGL01700:Zswim5	APN	4	116,843,658 (GRCm39)	unclassified	probably benign
IGL01975:Zswim5	APN	4	116,822,889 (GRCm39)	missense	probably benign	0.03
IGL02334:Zswim5	APN	4	116,843,841 (GRCm39)	missense	probably damaging	1.00
IGL02505:Zswim5	APN	4	116,819,749 (GRCm39)	missense	probably benign	0.43
IGL02712:Zswim5	APN	4	116,842,892 (GRCm39)	missense	probably damaging	0.99
PIT4243001:Zswim5	UTSW	4	116,841,975 (GRCm39)	missense	probably benign	0.10
R0324:Zswim5	UTSW	4	116,844,103 (GRCm39)	missense	probably damaging	1.00
R0611:Zswim5	UTSW	4	116,843,874 (GRCm39)	splice site	probably null
R0730:Zswim5	UTSW	4	116,842,943 (GRCm39)	missense	possibly damaging	0.75
R1663:Zswim5	UTSW	4	116,844,092 (GRCm39)	missense	probably damaging	1.00
R1843:Zswim5	UTSW	4	116,734,896 (GRCm39)	missense	unknown
R2070:Zswim5	UTSW	4	116,837,109 (GRCm39)	missense	probably benign	0.14
R2176:Zswim5	UTSW	4	116,830,238 (GRCm39)	missense	probably damaging	0.99
R3715:Zswim5	UTSW	4	116,819,755 (GRCm39)	missense	probably benign	0.21
R4044:Zswim5	UTSW	4	116,843,899 (GRCm39)	missense	probably damaging	1.00
R4063:Zswim5	UTSW	4	116,735,177 (GRCm39)	missense	unknown
R4118:Zswim5	UTSW	4	116,844,016 (GRCm39)	missense	possibly damaging	0.93
R4612:Zswim5	UTSW	4	116,843,901 (GRCm39)	missense	probably damaging	1.00
R4782:Zswim5	UTSW	4	116,830,169 (GRCm39)	missense	probably benign	0.00
R4799:Zswim5	UTSW	4	116,830,169 (GRCm39)	missense	probably benign	0.00
R4983:Zswim5	UTSW	4	116,842,883 (GRCm39)	missense	possibly damaging	0.60
R5294:Zswim5	UTSW	4	116,836,774 (GRCm39)	missense	possibly damaging	0.93
R5836:Zswim5	UTSW	4	116,842,000 (GRCm39)	missense	probably benign	0.27
R6025:Zswim5	UTSW	4	116,808,106 (GRCm39)	missense	probably damaging	1.00
R6041:Zswim5	UTSW	4	116,819,818 (GRCm39)	missense	probably benign	0.01
R6042:Zswim5	UTSW	4	116,819,818 (GRCm39)	missense	probably benign	0.01
R6043:Zswim5	UTSW	4	116,819,818 (GRCm39)	missense	probably benign	0.01
R6159:Zswim5	UTSW	4	116,836,876 (GRCm39)	missense	probably damaging	1.00
R6198:Zswim5	UTSW	4	116,735,204 (GRCm39)	missense	probably benign	0.13
R6415:Zswim5	UTSW	4	116,838,063 (GRCm39)	missense	possibly damaging	0.89
R6442:Zswim5	UTSW	4	116,808,202 (GRCm39)	missense	probably damaging	1.00
R6547:Zswim5	UTSW	4	116,844,100 (GRCm39)	missense	probably damaging	1.00
R6616:Zswim5	UTSW	4	116,843,938 (GRCm39)	missense	possibly damaging	0.93
R6745:Zswim5	UTSW	4	116,832,401 (GRCm39)	missense	probably damaging	1.00
R7144:Zswim5	UTSW	4	116,833,173 (GRCm39)	critical splice donor site	probably null
R7260:Zswim5	UTSW	4	116,819,843 (GRCm39)	missense	probably damaging	1.00
R7300:Zswim5	UTSW	4	116,833,102 (GRCm39)	missense	probably damaging	1.00
R7310:Zswim5	UTSW	4	116,841,885 (GRCm39)	missense	probably benign	0.01
R7326:Zswim5	UTSW	4	116,838,031 (GRCm39)	missense	possibly damaging	0.75
R7429:Zswim5	UTSW	4	116,833,054 (GRCm39)	missense	possibly damaging	0.87
R7430:Zswim5	UTSW	4	116,833,054 (GRCm39)	missense	possibly damaging	0.87
R7607:Zswim5	UTSW	4	116,843,939 (GRCm39)	missense	possibly damaging	0.93
R7811:Zswim5	UTSW	4	116,734,673 (GRCm39)	missense	unknown
R7993:Zswim5	UTSW	4	116,808,291 (GRCm39)	missense	probably benign	0.10
R8221:Zswim5	UTSW	4	116,735,219 (GRCm39)	missense	probably benign	0.09
R8341:Zswim5	UTSW	4	116,843,989 (GRCm39)	missense	probably damaging	1.00
R8690:Zswim5	UTSW	4	116,842,002 (GRCm39)	missense	probably damaging	1.00
R8766:Zswim5	UTSW	4	116,816,004 (GRCm39)	missense	probably damaging	1.00
R8808:Zswim5	UTSW	4	116,822,887 (GRCm39)	missense	probably benign	0.34
R9175:Zswim5	UTSW	4	116,822,941 (GRCm39)	missense	probably benign	0.38
R9354:Zswim5	UTSW	4	116,844,232 (GRCm39)	missense	probably damaging	1.00
R9639:Zswim5	UTSW	4	116,836,714 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCCTTGACTACCCACAG -3'
(R):5'- CGCAGGATATCAGAAAGCACTG -3'

Sequencing Primer
(F):5'- AGGAACTGGCTAGCTGTGCTC -3'
(R):5'- TATCAGAAAGCACTGTGGCAC -3'

Posted On

2020-10-20