Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Zswim4'

507275

Institutional Source

Beutler Lab

Gene Symbol

Zswim4

Ensembl Gene

ENSMUSG00000035671

Gene Name

zinc finger SWIM-type containing 4

Synonyms

E130119J17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R6270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84210678-84237055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84230951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 163 (V163M)

Ref Sequence

ENSEMBL: ENSMUSP00000040078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039480]

AlphaFold

Q8C7B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039480
AA Change: V163M

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

SMART Domains

Protein: ENSMUSP00000040078
Gene: ENSMUSG00000035671
AA Change: V163M

Domain	Start	End	E-Value	Type
low complexity region	531	545	N/A	INTRINSIC
low complexity region	576	588	N/A	INTRINSIC
low complexity region	607	628	N/A	INTRINSIC
low complexity region	672	683	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC

Meta Mutation Damage Score

0.3496

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,421	D65G	probably damaging	Het
Acsl6	A	G	11: 54,352,107	E648G	probably benign	Het
Ak7	A	G	12: 105,768,701	H642R	probably benign	Het
Akap11	T	C	14: 78,518,799	E53G	probably damaging	Het
Ddr2	T	G	1: 169,988,540	T533P	probably benign	Het
Dhx40	A	G	11: 86,799,605	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,392,269		probably benign	Het
Eng	A	G	2: 32,673,643	D347G	probably benign	Het
Esrra	C	T	19: 6,914,120		probably null	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fap	T	C	2: 62,547,788	I159V	probably damaging	Het
Fn1	C	T	1: 71,637,275	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,757,463	V395A	probably damaging	Het
Foxn3	T	C	12: 99,388,417	R163G	probably damaging	Het
Gphn	T	G	12: 78,522,950	L306R	probably benign	Het
Gse1	T	C	8: 120,569,163		probably benign	Het
Habp2	A	G	19: 56,306,863	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,808,495		probably null	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Kit	A	G	5: 75,609,509	T194A	probably benign	Het
Krt16	C	A	11: 100,247,203	A316S	possibly damaging	Het
Krt7	A	G	15: 101,419,558	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,273,351	Y77*	probably null	Het
Lrrc18	A	T	14: 33,009,121	M206L	probably benign	Het
Magel2	C	A	7: 62,380,658	C1103*	probably null	Het
Mcf2l	T	C	8: 13,018,701	V1058A	probably damaging	Het
Nbas	G	A	12: 13,324,293	A541T	probably damaging	Het
Nrap	C	T	19: 56,320,198	M1485I	probably benign	Het
Nudt18	T	C	14: 70,579,390	Y145H	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,419	C97S	probably damaging	Het
Olfr583	T	C	7: 103,051,331	L11P	probably benign	Het
Olfr623	T	C	7: 103,660,413	Y279C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,436,785	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,158,436	W431R	probably damaging	Het
Pga5	T	C	19: 10,674,861	E139G	probably benign	Het
Pkdrej	G	T	15: 85,821,105	S210*	probably null	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Sema3d	A	T	5: 12,448,107	M27L	probably benign	Het
Serinc5	T	C	13: 92,688,662	S200P	probably damaging	Het
Sf3b3	T	C	8: 110,841,820	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,517,554		probably null	Het
Tcaf3	T	C	6: 42,593,791	I342M	probably benign	Het
Tenm3	G	A	8: 48,367,394	T136M	probably damaging	Het
Tet3	T	C	6: 83,375,791	T1008A	possibly damaging	Het
Tgif1	T	C	17: 70,844,866		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,649,866	D81G	probably benign	Het
Trpv5	T	A	6: 41,674,359	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,800,388	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,194,325	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,293,815	I847V	probably benign	Het
Zfp474	A	G	18: 52,638,364	T30A	probably benign	Het

Other mutations in Zswim4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Zswim4	APN	8	84212140	missense	probably damaging	1.00
IGL03048:Zswim4	UTSW	8	84211975	missense	possibly damaging	0.95
R0217:Zswim4	UTSW	8	84212664	missense	probably damaging	1.00
R0688:Zswim4	UTSW	8	84228888	missense	possibly damaging	0.93
R1217:Zswim4	UTSW	8	84219972	missense	possibly damaging	0.89
R1853:Zswim4	UTSW	8	84224200	missense	probably damaging	1.00
R1878:Zswim4	UTSW	8	84212776	missense	possibly damaging	0.55
R2205:Zswim4	UTSW	8	84225869	missense	possibly damaging	0.70
R2940:Zswim4	UTSW	8	84223748	missense	probably damaging	1.00
R3747:Zswim4	UTSW	8	84212047	missense	possibly damaging	0.86
R3748:Zswim4	UTSW	8	84212047	missense	possibly damaging	0.86
R3750:Zswim4	UTSW	8	84212047	missense	possibly damaging	0.86
R4777:Zswim4	UTSW	8	84236957	missense	probably benign
R4831:Zswim4	UTSW	8	84212319	missense	probably damaging	1.00
R4959:Zswim4	UTSW	8	84212223	missense	probably benign	0.22
R4968:Zswim4	UTSW	8	84217372	missense	probably benign	0.37
R4973:Zswim4	UTSW	8	84212223	missense	probably benign	0.22
R4977:Zswim4	UTSW	8	84226667	splice site	probably null
R4978:Zswim4	UTSW	8	84226667	splice site	probably null
R4980:Zswim4	UTSW	8	84226667	splice site	probably null
R4981:Zswim4	UTSW	8	84226667	splice site	probably null
R4982:Zswim4	UTSW	8	84226667	splice site	probably null
R4983:Zswim4	UTSW	8	84226667	splice site	probably null
R5248:Zswim4	UTSW	8	84219932	missense	probably benign	0.13
R5337:Zswim4	UTSW	8	84235079	missense	probably damaging	1.00
R5366:Zswim4	UTSW	8	84212790	missense	probably benign	0.39
R5646:Zswim4	UTSW	8	84231110	splice site	probably null
R5845:Zswim4	UTSW	8	84217242	splice site	probably null
R6193:Zswim4	UTSW	8	84226145	missense	probably benign
R6648:Zswim4	UTSW	8	84230914	missense	probably benign	0.22
R6920:Zswim4	UTSW	8	84214085	missense	probably benign	0.01
R7117:Zswim4	UTSW	8	84214052	missense	probably damaging	1.00
R7155:Zswim4	UTSW	8	84219927	missense	probably damaging	1.00
R7344:Zswim4	UTSW	8	84223698	nonsense	probably null
R7354:Zswim4	UTSW	8	84228849	missense	probably damaging	1.00
R8036:Zswim4	UTSW	8	84223289	missense	probably benign	0.22
R8408:Zswim4	UTSW	8	84212385	missense	possibly damaging	0.82
R8518:Zswim4	UTSW	8	84211957	missense	probably damaging	1.00
R8750:Zswim4	UTSW	8	84212684	missense	possibly damaging	0.82
R8830:Zswim4	UTSW	8	84223316	missense	possibly damaging	0.92
R8838:Zswim4	UTSW	8	84214070	missense	probably damaging	1.00
R8840:Zswim4	UTSW	8	84214070	missense	probably damaging	1.00
R8842:Zswim4	UTSW	8	84214070	missense	probably damaging	1.00
R9185:Zswim4	UTSW	8	84237004	start codon destroyed	probably null	0.94
R9355:Zswim4	UTSW	8	84229058	missense	probably damaging	1.00
R9432:Zswim4	UTSW	8	84236910	missense	probably damaging	1.00
R9635:Zswim4	UTSW	8	84212725	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAGGATCTCGTCAGCAAGAC -3'
(R):5'- CCTGAGTGGGAACATCAGAG -3'

Sequencing Primer
(F):5'- TCAGCAAGACGTTGGGC -3'
(R):5'- GCGATCCCGTCTCCTCAGTG -3'

Posted On

2018-03-15