Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Zswim9'

549276

Institutional Source

Beutler Lab

Gene Symbol

Zswim9

Ensembl Gene

ENSMUSG00000070814

Gene Name

zinc finger SWIM-type containing 9

Synonyms

6330408A02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13258967-13278721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13259752 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 826 (R826C)

Ref Sequence

ENSEMBL: ENSMUSP00000104172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108532] [ENSMUST00000119139] [ENSMUST00000119558]

Predicted Effect

probably damaging
Transcript: ENSMUST00000108532
AA Change: R826C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: R826C

Domain	Start	End	E-Value	Type
low complexity region	213	224	N/A	INTRINSIC
low complexity region	405	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119139

SMART Domains

Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814

Domain	Start	End	E-Value	Type
low complexity region	213	224	N/A	INTRINSIC
low complexity region	405	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119558

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het

Other mutations in Zswim9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Zswim9	APN	7	13260321	missense	possibly damaging	0.53
IGL02063:Zswim9	APN	7	13260681	missense	probably damaging	0.98
R0568:Zswim9	UTSW	7	13261026	missense	probably damaging	0.99
R0680:Zswim9	UTSW	7	13260321	missense	probably benign	0.10
R1438:Zswim9	UTSW	7	13277218	missense	possibly damaging	0.86
R1600:Zswim9	UTSW	7	13269571	missense	probably damaging	1.00
R1678:Zswim9	UTSW	7	13277411	missense	probably benign	0.04
R1745:Zswim9	UTSW	7	13269556	missense	probably damaging	1.00
R1938:Zswim9	UTSW	7	13260214	nonsense	probably null
R2025:Zswim9	UTSW	7	13269366	missense	probably damaging	0.98
R3149:Zswim9	UTSW	7	13277270	missense	possibly damaging	0.94
R3150:Zswim9	UTSW	7	13277270	missense	possibly damaging	0.94
R3176:Zswim9	UTSW	7	13277270	missense	possibly damaging	0.94
R3177:Zswim9	UTSW	7	13277270	missense	possibly damaging	0.94
R3276:Zswim9	UTSW	7	13277270	missense	possibly damaging	0.94
R3277:Zswim9	UTSW	7	13277270	missense	possibly damaging	0.94
R3950:Zswim9	UTSW	7	13261577	missense	possibly damaging	0.95
R4554:Zswim9	UTSW	7	13277162	missense	probably benign	0.33
R4866:Zswim9	UTSW	7	13261169	missense	probably damaging	0.99
R4953:Zswim9	UTSW	7	13269558	missense	probably damaging	1.00
R5330:Zswim9	UTSW	7	13259985	missense	probably damaging	1.00
R5394:Zswim9	UTSW	7	13260983	missense	probably damaging	1.00
R5408:Zswim9	UTSW	7	13260826	missense	possibly damaging	0.66
R5654:Zswim9	UTSW	7	13261168	missense	probably damaging	0.99
R5810:Zswim9	UTSW	7	13260735	missense	probably damaging	0.98
R5859:Zswim9	UTSW	7	13261445	missense	probably damaging	0.99
R6235:Zswim9	UTSW	7	13261603	missense	probably damaging	1.00
R6239:Zswim9	UTSW	7	13261331	nonsense	probably null
R6249:Zswim9	UTSW	7	13260977	missense	probably damaging	0.98
R6394:Zswim9	UTSW	7	13260963	missense	probably damaging	0.99
R7133:Zswim9	UTSW	7	13259737	missense	probably damaging	0.98
R7178:Zswim9	UTSW	7	13259997	missense	possibly damaging	0.53
R7595:Zswim9	UTSW	7	13261072	missense	probably benign	0.21
R8005:Zswim9	UTSW	7	13261138	missense	probably damaging	0.98
R8138:Zswim9	UTSW	7	13261411	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCTTTAGATGACTCAGGAGG -3'
(R):5'- TGGCAGATCTAGTGGCAGAG -3'

Sequencing Primer
(F):5'- CTCAGGAGGTGATTAGAAGTGCTC -3'
(R):5'- TCTAGTGGCAGAGGAGCTAGCC -3'

Posted On

2019-05-15