Mutagenetix > Incidental Mutation

Incidental Mutation 'R5360:D17Wsu92e'

424321

Institutional Source

Beutler Lab

Gene Symbol

D17Wsu92e

Ensembl Gene

ENSMUSG00000056692

Gene Name

DNA segment, Chr 17, Wayne State University 92, expressed

Synonyms

MMRRC Submission

042939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27794046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 59 (I59N)

Ref Sequence

ENSEMBL: ENSMUSP00000110513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]

AlphaFold

Q3TT38

Predicted Effect

probably damaging
Transcript: ENSMUST00000075076
AA Change: I59N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: I59N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	68	1.6e-13	PFAM
Pfam:N_BRCA1_IG	80	179	1.6e-37	PFAM
low complexity region	257	276	N/A	INTRINSIC
low complexity region	282	291	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114859
AA Change: I59N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
AA Change: I59N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	5.1e-15	PFAM
PDB:4OLE\|D	74	180	2e-9	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114863
AA Change: I59N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: I59N

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	2.2e-14	PFAM
PDB:4OLE\|D	74	180	8e-9	PDB
low complexity region	257	276	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Acsl5	T	A	19: 55,291,160	Y443*	probably null	Het
Aox3	C	T	1: 58,146,508	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,259,671	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,278,869		probably null	Het
Brpf3	A	T	17: 28,810,562	M499L	probably benign	Het
Cacnb1	A	T	11: 98,018,271		probably null	Het
Cep295	A	G	9: 15,326,733	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,518,857	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,669,203	Y2532F	probably damaging	Het
Dsg1a	A	G	18: 20,340,954	D1028G	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gabra5	C	T	7: 57,490,785	G55R	probably damaging	Het
Gdf9	T	A	11: 53,437,207	F330Y	probably benign	Het
Gimap8	T	C	6: 48,656,302	S352P	probably damaging	Het
Gm4952	A	T	19: 12,623,629	H71L	probably benign	Het
Gm6803	A	C	12: 88,018,495	L93V	probably benign	Het
Gnaq	G	A	19: 16,133,426	R34H	probably benign	Het
Hebp2	T	C	10: 18,544,307	D126G	probably benign	Het
Hectd4	A	G	5: 121,315,401	D601G	possibly damaging	Het
Hook2	T	C	8: 85,001,404	Y577H	probably damaging	Het
Igfals	A	G	17: 24,880,093	T53A	probably benign	Het
Igsf9b	A	G	9: 27,311,672	D123G	probably damaging	Het
Ikbkap	A	T	4: 56,800,104	H7Q	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mdm4	A	T	1: 132,991,658	*490K	probably null	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Neurl2	C	A	2: 164,833,101	A114S	probably damaging	Het
Nuggc	A	G	14: 65,638,626	T563A	probably damaging	Het
Olfr951	T	G	9: 39,394,402	F204V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pdlim1	A	T	19: 40,230,549	S213T	probably damaging	Het
Pitx1	T	C	13: 55,828,478	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,879,204	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,734,345	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,349,146	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,016,571	R383*	probably null	Het
Prl7a2	C	T	13: 27,659,160	R220H	probably benign	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,389,855	V454A	possibly damaging	Het
Robo1	A	G	16: 72,935,777	T307A	probably damaging	Het
Slc22a6	T	C	19: 8,619,422	L188P	probably damaging	Het
Spag17	A	G	3: 100,109,410	N2167S	probably benign	Het
Spag5	G	A	11: 78,314,762	E680K	probably damaging	Het
Spata6	A	G	4: 111,822,829	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 50,984,632	D47G	probably benign	Het
Trp53	T	C	11: 69,588,740		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,417,267		probably benign	Het
Ttc39b	T	C	4: 83,261,847	D103G	probably damaging	Het
Ttn	A	C	2: 76,919,978	W3576G	probably benign	Het
Yeats2	T	A	16: 20,154,162	M22K	probably damaging	Het

Other mutations in D17Wsu92e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:D17Wsu92e	APN	17	27,767,919 (GRCm38)	missense	probably damaging	1.00
IGL01107:D17Wsu92e	APN	17	27,786,069 (GRCm38)	critical splice donor site	probably null
IGL01805:D17Wsu92e	APN	17	27,767,906 (GRCm38)	splice site	probably benign
detroit	UTSW	17	27,794,070 (GRCm38)	splice site	probably null
michigander	UTSW	17	27,767,986 (GRCm38)	missense	probably benign	0.12
R0423:D17Wsu92e	UTSW	17	27,786,233 (GRCm38)	missense	probably damaging	1.00
R0833:D17Wsu92e	UTSW	17	27,786,138 (GRCm38)	missense	probably damaging	1.00
R0836:D17Wsu92e	UTSW	17	27,786,138 (GRCm38)	missense	probably damaging	1.00
R1055:D17Wsu92e	UTSW	17	27,767,936 (GRCm38)	missense	probably damaging	1.00
R1251:D17Wsu92e	UTSW	17	27,786,070 (GRCm38)	critical splice donor site	probably null
R1646:D17Wsu92e	UTSW	17	27,793,960 (GRCm38)	missense	probably damaging	1.00
R4022:D17Wsu92e	UTSW	17	27,786,262 (GRCm38)	missense	probably damaging	0.97
R4604:D17Wsu92e	UTSW	17	27,820,315 (GRCm38)	missense	probably damaging	1.00
R6210:D17Wsu92e	UTSW	17	27,767,986 (GRCm38)	missense	probably benign	0.12
R7201:D17Wsu92e	UTSW	17	27,794,070 (GRCm38)	splice site	probably null
R7994:D17Wsu92e	UTSW	17	27,767,943 (GRCm38)	missense	probably benign
R8057:D17Wsu92e	UTSW	17	27,767,889 (GRCm38)	missense	unknown
R8767:D17Wsu92e	UTSW	17	27,768,069 (GRCm38)	missense	probably benign	0.01
R9269:D17Wsu92e	UTSW	17	27,786,075 (GRCm38)	nonsense	probably null
R9629:D17Wsu92e	UTSW	17	27,793,939 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCATGCCCTTCTCAGTCTAAC -3'
(R):5'- ACACTGCCTTCAGGAGAAAATG -3'

Sequencing Primer
(F):5'- GCCCTTCTCAGTCTAACTTTAAAAC -3'
(R):5'- CTTCAGGAGAAAATGGCACAAGTTTG -3'

Posted On

2016-08-04