Mutagenetix > Incidental Mutation

Incidental Mutation 'R3150:Zswim7'

271640

Institutional Source

Beutler Lab

Gene Symbol

Zswim7

Ensembl Gene

ENSMUSG00000014243

Gene Name

zinc finger SWIM-type containing 7

Synonyms

SWS1, 2410012H22Rik

MMRRC Submission

040602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R3150 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62158050-62172201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62164611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 43 (I43N)

Ref Sequence

ENSEMBL: ENSMUSP00000072688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072916]

AlphaFold

Q9CWQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072916
AA Change: I43N

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072688
Gene: ENSMUSG00000014243
AA Change: I43N

Domain	Start	End	E-Value	Type
Pfam:SWIM	66	114	1.7e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,313,590 (GRCm39)	S178T	possibly damaging	Het
Cabin1	A	G	10: 75,492,745 (GRCm39)	L1850P	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Ces1g	C	T	8: 94,052,444 (GRCm39)	V282I	probably benign	Het
Col4a3	T	G	1: 82,634,858 (GRCm39)		probably null	Het
Crat	C	T	2: 30,303,871 (GRCm39)		probably null	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cspg4b	A	T	13: 113,488,294 (GRCm39)	Q105H	probably damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Ddb1	T	A	19: 10,590,346 (GRCm39)	M291K	probably benign	Het
Fcgbpl1	C	A	7: 27,853,620 (GRCm39)	T1528N	probably benign	Het
Gfod2	C	T	8: 106,443,853 (GRCm39)	G230D	probably benign	Het
Git2	A	G	5: 114,868,410 (GRCm39)	S257P	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hnrnph1	T	A	11: 50,276,619 (GRCm39)	V439E	probably benign	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Map3k20	C	T	2: 72,202,336 (GRCm39)	T189M	probably damaging	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nmral1	G	A	16: 4,534,333 (GRCm39)	T36I	probably damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or5b119	A	G	19: 13,456,824 (GRCm39)	V246A	probably damaging	Het
Or7e169	A	G	9: 19,757,510 (GRCm39)	I135T	possibly damaging	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pkd1	G	T	17: 24,798,765 (GRCm39)	R2691L	probably benign	Het
Ppp2r2a	G	A	14: 67,261,214 (GRCm39)	R169W	probably damaging	Het
Prdm1	A	T	10: 44,334,488 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,767,157 (GRCm39)	P443L	possibly damaging	Het
Rtn4	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	11: 29,643,308 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,045,774 (GRCm39)	H865R	probably damaging	Het
Spats1	A	T	17: 45,775,480 (GRCm39)	S15T	probably damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
Tie1	G	A	4: 118,333,022 (GRCm39)	A902V	probably damaging	Het
Usp22	T	C	11: 61,051,407 (GRCm39)	Q312R	probably damaging	Het
Vmn2r32	T	C	7: 7,475,554 (GRCm39)	Y443C	probably benign	Het
Vps13d	A	C	4: 144,813,360 (GRCm39)	D3274E	probably damaging	Het
Wdr62	A	T	7: 29,971,095 (GRCm39)	N167K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Zswim7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02348:Zswim7	APN	11	62,159,581 (GRCm39)	nonsense	probably null
R0715:Zswim7	UTSW	11	62,167,473 (GRCm39)	unclassified	probably benign
R2029:Zswim7	UTSW	11	62,158,299 (GRCm39)	unclassified	probably benign
R5361:Zswim7	UTSW	11	62,158,373 (GRCm39)	missense	probably benign	0.00
R6857:Zswim7	UTSW	11	62,171,955 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CATACTTCACGTTGGTTGTTAGC -3'
(R):5'- CTCTGTAAAAGAAGTGGATGGCAC -3'

Sequencing Primer
(F):5'- TGTTAGCTTCCACAGAGACTG -3'
(R):5'- GCACTTGAGGGACAGCACAC -3'

Posted On

2015-03-25