Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Zswim9'

307864

Institutional Source

Beutler Lab

Gene Symbol

Zswim9

Ensembl Gene

ENSMUSG00000070814

Gene Name

zinc finger SWIM-type containing 9

Synonyms

6330408A02Rik

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12992894-13012647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12995503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 218 (T218S)

Ref Sequence

ENSEMBL: ENSMUSP00000104172 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108532
AA Change: T218S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: T218S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119139
AA Change: T218S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: T218S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135898

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Appbp2	A	G	11: 85,085,532 (GRCm39)	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,021,013 (GRCm39)	Y291C	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,588,384 (GRCm39)	A72S	probably benign	Het
C3	T	C	17: 57,532,286 (GRCm39)	R178G	probably benign	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Col11a1	T	C	3: 113,915,094 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,849,207 (GRCm39)	F294L	possibly damaging	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061 (GRCm39)	Y276*	probably null	Het
Eea1	A	T	10: 95,877,996 (GRCm39)	N1389I	probably damaging	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,419 (GRCm39)	K219*	probably null	Het
Fsd1	G	A	17: 56,302,517 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,027,221 (GRCm39)	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,763,454 (GRCm39)	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,296,524 (GRCm39)	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,393,260 (GRCm39)	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,296,441 (GRCm39)	P609T	probably damaging	Het
Klhl18	T	A	9: 110,257,970 (GRCm39)	Y490F	probably damaging	Het
Ky	C	T	9: 102,419,627 (GRCm39)	Q545*	probably null	Het
L1td1	T	C	4: 98,625,590 (GRCm39)	L595P	probably benign	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Mug1	T	A	6: 121,855,489 (GRCm39)	V941E	probably damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Ninl	A	T	2: 150,794,408 (GRCm39)	I740K	possibly damaging	Het
Npepl1	A	G	2: 173,962,906 (GRCm39)	N431D	probably damaging	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Pacs2	T	C	12: 113,024,733 (GRCm39)	S408P	probably damaging	Het
Pard6b	C	T	2: 167,941,114 (GRCm39)	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,849,568 (GRCm39)	E525G	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pcx	C	T	19: 4,667,995 (GRCm39)	H506Y	probably benign	Het
Pdhx	A	G	2: 102,865,586 (GRCm39)	S199P	probably damaging	Het
Pdia2	C	A	17: 26,416,590 (GRCm39)		probably null	Het
Pif1	C	A	9: 65,499,116 (GRCm39)	N445K	probably damaging	Het
Prickle4	T	C	17: 47,999,507 (GRCm39)	K349E	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,742,670 (GRCm39)	M173K	probably damaging	Het
Rb1	A	G	14: 73,500,102 (GRCm39)	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,590,877 (GRCm39)	K154E	probably damaging	Het
Ros1	C	T	10: 51,942,484 (GRCm39)	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,689,484 (GRCm39)	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,652,708 (GRCm39)	V318I	probably benign	Het
Srek1	G	A	13: 103,881,403 (GRCm39)	R408W	unknown	Het
Synrg	C	T	11: 83,880,641 (GRCm39)	T444I	probably damaging	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Tmem127	T	C	2: 127,090,577 (GRCm39)	L31P	probably damaging	Het
Tmprss15	T	A	16: 78,870,074 (GRCm39)	T190S	probably benign	Het
Trip10	T	A	17: 57,560,411 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,696,292 (GRCm39)	Y31C	probably damaging	Het
Unc80	A	T	1: 66,661,729 (GRCm39)	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,569,599 (GRCm39)	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,203,301 (GRCm39)	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,979,403 (GRCm39)	S337P	probably damaging	Het

Other mutations in Zswim9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Zswim9	APN	7	12,994,248 (GRCm39)	missense	possibly damaging	0.53
IGL02063:Zswim9	APN	7	12,994,608 (GRCm39)	missense	probably damaging	0.98
R0568:Zswim9	UTSW	7	12,994,952 (GRCm39)	missense	probably damaging	0.99
R0680:Zswim9	UTSW	7	12,994,248 (GRCm39)	missense	probably benign	0.10
R1438:Zswim9	UTSW	7	13,011,144 (GRCm39)	missense	possibly damaging	0.86
R1600:Zswim9	UTSW	7	13,003,497 (GRCm39)	missense	probably damaging	1.00
R1678:Zswim9	UTSW	7	13,011,337 (GRCm39)	missense	probably benign	0.04
R1745:Zswim9	UTSW	7	13,003,482 (GRCm39)	missense	probably damaging	1.00
R1938:Zswim9	UTSW	7	12,994,141 (GRCm39)	nonsense	probably null
R2025:Zswim9	UTSW	7	13,003,292 (GRCm39)	missense	probably damaging	0.98
R3149:Zswim9	UTSW	7	13,011,196 (GRCm39)	missense	possibly damaging	0.94
R3150:Zswim9	UTSW	7	13,011,196 (GRCm39)	missense	possibly damaging	0.94
R3176:Zswim9	UTSW	7	13,011,196 (GRCm39)	missense	possibly damaging	0.94
R3177:Zswim9	UTSW	7	13,011,196 (GRCm39)	missense	possibly damaging	0.94
R3276:Zswim9	UTSW	7	13,011,196 (GRCm39)	missense	possibly damaging	0.94
R3277:Zswim9	UTSW	7	13,011,196 (GRCm39)	missense	possibly damaging	0.94
R4554:Zswim9	UTSW	7	13,011,088 (GRCm39)	missense	probably benign	0.33
R4866:Zswim9	UTSW	7	12,995,095 (GRCm39)	missense	probably damaging	0.99
R4953:Zswim9	UTSW	7	13,003,484 (GRCm39)	missense	probably damaging	1.00
R5330:Zswim9	UTSW	7	12,993,912 (GRCm39)	missense	probably damaging	1.00
R5394:Zswim9	UTSW	7	12,994,909 (GRCm39)	missense	probably damaging	1.00
R5408:Zswim9	UTSW	7	12,994,753 (GRCm39)	missense	possibly damaging	0.66
R5654:Zswim9	UTSW	7	12,995,094 (GRCm39)	missense	probably damaging	0.99
R5810:Zswim9	UTSW	7	12,994,662 (GRCm39)	missense	probably damaging	0.98
R5859:Zswim9	UTSW	7	12,995,371 (GRCm39)	missense	probably damaging	0.99
R6235:Zswim9	UTSW	7	12,995,529 (GRCm39)	missense	probably damaging	1.00
R6239:Zswim9	UTSW	7	12,995,257 (GRCm39)	nonsense	probably null
R6249:Zswim9	UTSW	7	12,994,903 (GRCm39)	missense	probably damaging	0.98
R6394:Zswim9	UTSW	7	12,994,889 (GRCm39)	missense	probably damaging	0.99
R7077:Zswim9	UTSW	7	12,993,679 (GRCm39)	missense	probably damaging	1.00
R7133:Zswim9	UTSW	7	12,993,664 (GRCm39)	missense	probably damaging	0.98
R7178:Zswim9	UTSW	7	12,993,924 (GRCm39)	missense	possibly damaging	0.53
R7595:Zswim9	UTSW	7	12,994,998 (GRCm39)	missense	probably benign	0.21
R8005:Zswim9	UTSW	7	12,995,064 (GRCm39)	missense	probably damaging	0.98
R8138:Zswim9	UTSW	7	12,995,337 (GRCm39)	missense	probably damaging	1.00
R8282:Zswim9	UTSW	7	12,995,536 (GRCm39)	missense	probably benign
R8818:Zswim9	UTSW	7	12,994,456 (GRCm39)	missense	probably benign	0.19
R9241:Zswim9	UTSW	7	13,003,360 (GRCm39)	missense	probably damaging	1.00
R9277:Zswim9	UTSW	7	12,994,983 (GRCm39)	missense	probably damaging	0.96
R9787:Zswim9	UTSW	7	12,994,205 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGACATCAGGAGCGCTTTGC -3'
(R):5'- GCAAACCCATGGACGAATGG -3'

Sequencing Primer
(F):5'- GCTTTGCAGCAGGGAAACC -3'
(R):5'- GGATTTGCATTACACGCACG -3'

Posted On

2015-04-17