Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Zswim9'

475848

Institutional Source

Beutler Lab

Gene Symbol

Zswim9

Ensembl Gene

ENSMUSG00000070814

Gene Name

zinc finger SWIM-type containing 9

Synonyms

6330408A02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13258967-13278721 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13277270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 51 (T51A)

Ref Sequence

ENSEMBL: ENSMUSP00000104172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098814] [ENSMUST00000108532] [ENSMUST00000119139] [ENSMUST00000119558] [ENSMUST00000123025] [ENSMUST00000144470] [ENSMUST00000146998] [ENSMUST00000165964] [ENSMUST00000177588] [ENSMUST00000185145]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098814

SMART Domains

Protein: ENSMUSP00000096411
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	301	479	8.6e-50	PFAM
Pfam:DNA_ligase_A_M	556	760	3.4e-67	PFAM
Pfam:DNA_ligase_A_C	785	896	9.4e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108532
AA Change: T51A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: T51A

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
AA Change: T51A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: T51A

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
AA Change: T51A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000123025

SMART Domains

Protein: ENSMUSP00000114872
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	96	111	N/A	INTRINSIC
low complexity region	159	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123846

SMART Domains

Protein: ENSMUSP00000119788
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	301	479	4e-47	PFAM
Pfam:DNA_ligase_A_M	556	687	1e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140530

Predicted Effect

probably benign
Transcript: ENSMUST00000144470

Predicted Effect

probably benign
Transcript: ENSMUST00000146998

SMART Domains

Protein: ENSMUSP00000121102
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
low complexity region	160	178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147735

SMART Domains

Protein: ENSMUSP00000115286
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	301	479	4e-47	PFAM
Pfam:DNA_ligase_A_M	556	687	1e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148471

SMART Domains

Protein: ENSMUSP00000114153
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	301	479	4e-47	PFAM
Pfam:DNA_ligase_A_M	556	687	1e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156525

SMART Domains

Protein: ENSMUSP00000118055
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	301	479	4e-47	PFAM
Pfam:DNA_ligase_A_M	556	687	1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165964

SMART Domains

Protein: ENSMUSP00000126525
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	302	478	1.7e-40	PFAM
Pfam:DNA_ligase_A_M	556	760	1.1e-69	PFAM
Pfam:DNA_ligase_A_C	785	896	1.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177588

SMART Domains

Protein: ENSMUSP00000136972
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
Pfam:DNA_ligase_A_N	301	479	8.6e-50	PFAM
Pfam:DNA_ligase_A_M	556	760	3.4e-67	PFAM
Pfam:DNA_ligase_A_C	785	896	9.4e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211707

Predicted Effect

probably benign
Transcript: ENSMUST00000185145

SMART Domains

Protein: ENSMUSP00000138907
Gene: ENSMUSG00000056394

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
coiled coil region	149	173	N/A	INTRINSIC
PDB:1X9N\|A	247	313	3e-24	PDB

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	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
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
R7077:Zswim9	UTSW	7	13259752	missense	probably damaging	1.00
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
R8282:Zswim9	UTSW	7	13261610	missense	probably benign
R8818:Zswim9	UTSW	7	13260529	missense	probably benign	0.19
R9241:Zswim9	UTSW	7	13269434	missense	probably damaging	1.00
R9277:Zswim9	UTSW	7	13261057	missense	probably damaging	0.96
R9787:Zswim9	UTSW	7	13260278	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-05-11