Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00496:4933434E20Rik'

6838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933434E20Rik

Ensembl Gene

ENSMUSG00000027942

Gene Name

RIKEN cDNA 4933434E20 gene

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00496

Quality Score

Status

Chromosome

Chromosomal Location

89958941-89969754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89960400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 14 (V14M)

Ref Sequence

ENSEMBL: ENSMUSP00000123740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029552] [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000068798] [ENSMUST00000090908] [ENSMUST00000159064] [ENSMUST00000160640] [ENSMUST00000161918] [ENSMUST00000162114] [ENSMUST00000196633] [ENSMUST00000197903] [ENSMUST00000195995] [ENSMUST00000196917] [ENSMUST00000198322] [ENSMUST00000196843] [ENSMUST00000199834] [ENSMUST00000199929]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029552
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	189	1.3e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029553

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	389	398	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC
Pfam:DUF3697	514	546	4e-22	PFAM
low complexity region	554	589	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	714	745	N/A	INTRINSIC
low complexity region	748	804	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	893	916	N/A	INTRINSIC
low complexity region	1038	1051	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064639

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	394	403	N/A	INTRINSIC
low complexity region	405	414	N/A	INTRINSIC
low complexity region	464	489	N/A	INTRINSIC
Pfam:DUF3697	520	551	4.1e-18	PFAM
low complexity region	559	594	N/A	INTRINSIC
low complexity region	670	680	N/A	INTRINSIC
low complexity region	719	750	N/A	INTRINSIC
low complexity region	753	809	N/A	INTRINSIC
low complexity region	813	827	N/A	INTRINSIC
low complexity region	898	921	N/A	INTRINSIC
low complexity region	1043	1056	N/A	INTRINSIC
low complexity region	1077	1092	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068798
AA Change: V14M

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	171	2.6e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090908

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	148	N/A	INTRINSIC
low complexity region	173	201	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	411	420	N/A	INTRINSIC
low complexity region	470	495	N/A	INTRINSIC
Pfam:DUF3697	525	557	3.6e-22	PFAM
low complexity region	565	600	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	725	756	N/A	INTRINSIC
low complexity region	759	815	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159064
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:NICE-3	6	188	4.2e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159202

SMART Domains

Protein: ENSMUSP00000123777
Gene: ENSMUSG00000027942

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	61	2.3e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160640
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	189	3.2e-89	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161918
AA Change: V14M

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	64	2.2e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162114
AA Change: V14M

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:NICE-3	1	189	1.4e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160263

Predicted Effect

probably benign
Transcript: ENSMUST00000196633

SMART Domains

Protein: ENSMUSP00000143423
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	6.3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197903

SMART Domains

Protein: ENSMUSP00000143519
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PDB:1WJ7\|A	31	81	7e-32	PDB
Blast:UBA	50	81	7e-16	BLAST
SCOP:d1efub3	51	81	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195995

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	148	N/A	INTRINSIC
low complexity region	173	201	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	411	420	N/A	INTRINSIC
low complexity region	470	495	N/A	INTRINSIC
Pfam:DUF3697	526	557	3.7e-18	PFAM
low complexity region	565	600	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	725	756	N/A	INTRINSIC
low complexity region	759	815	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196917

SMART Domains

Protein: ENSMUSP00000142602
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PDB:1WJ7\|A	31	50	2e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000198322

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	369	378	N/A	INTRINSIC
low complexity region	380	389	N/A	INTRINSIC
low complexity region	439	464	N/A	INTRINSIC
Pfam:DUF3697	494	526	4.1e-22	PFAM
low complexity region	534	569	N/A	INTRINSIC
low complexity region	645	655	N/A	INTRINSIC
low complexity region	694	725	N/A	INTRINSIC
low complexity region	728	784	N/A	INTRINSIC
low complexity region	788	802	N/A	INTRINSIC
low complexity region	873	896	N/A	INTRINSIC
low complexity region	1017	1030	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196843

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	389	398	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC
Pfam:DUF3697	514	546	4e-22	PFAM
low complexity region	554	589	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	714	745	N/A	INTRINSIC
low complexity region	748	804	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	893	916	N/A	INTRINSIC
low complexity region	1038	1051	N/A	INTRINSIC
low complexity region	1072	1087	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199834

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	148	N/A	INTRINSIC
low complexity region	173	201	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	411	420	N/A	INTRINSIC
low complexity region	470	495	N/A	INTRINSIC
Pfam:DUF3697	525	557	3.6e-22	PFAM
low complexity region	565	600	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	725	756	N/A	INTRINSIC
low complexity region	759	815	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199929

SMART Domains

Protein: ENSMUSP00000142488
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PDB:1WJ7\|A	31	57	2e-12	PDB

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	C	A	10: 14,326,322 (GRCm39)		probably null	Het
Ankmy1	A	G	1: 92,813,988 (GRCm39)	L397P	probably damaging	Het
Atp6v1c1	A	G	15: 38,687,100 (GRCm39)	K232E	probably damaging	Het
Cnfn	G	T	7: 25,067,385 (GRCm39)		probably benign	Het
Copb2	A	G	9: 98,452,371 (GRCm39)	T52A	probably benign	Het
Daw1	A	C	1: 83,174,957 (GRCm39)	L152F	probably damaging	Het
Gpr87	A	T	3: 59,087,211 (GRCm39)	I98K	probably damaging	Het
Il17a	G	A	1: 20,802,507 (GRCm39)	R72H	probably damaging	Het
Lmtk2	A	G	5: 144,111,512 (GRCm39)	Q744R	probably benign	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Micall2	T	C	5: 139,702,083 (GRCm39)	T387A	probably benign	Het
Nckap1	T	A	2: 80,336,546 (GRCm39)	I1057F	possibly damaging	Het
Nr1h3	T	C	2: 91,020,544 (GRCm39)	D263G	probably damaging	Het
Nrip1	A	T	16: 76,090,591 (GRCm39)	V322E	possibly damaging	Het
Pck1	T	C	2: 172,995,911 (GRCm39)		probably null	Het
Ppp3r2	A	G	4: 49,681,773 (GRCm39)	I59T	possibly damaging	Het
Pradc1	A	G	6: 85,424,948 (GRCm39)		probably null	Het
Psmd14	A	G	2: 61,591,026 (GRCm39)	Y32C	probably damaging	Het
Rrp12	A	C	19: 41,866,466 (GRCm39)		probably null	Het
Scaf8	A	T	17: 3,221,409 (GRCm39)	I299F	unknown	Het
Selenoo	A	G	15: 88,979,875 (GRCm39)	D341G	probably damaging	Het
Slc1a6	C	A	10: 78,629,142 (GRCm39)	N186K	probably damaging	Het
Smarcc2	T	A	10: 128,298,924 (GRCm39)	S102R	probably damaging	Het
Stambpl1	T	A	19: 34,217,430 (GRCm39)	V423E	probably damaging	Het
Svep1	A	C	4: 58,069,001 (GRCm39)	C2928W	possibly damaging	Het
Tmed9	T	C	13: 55,741,334 (GRCm39)	Y43H	probably benign	Het
Ttn	T	C	2: 76,571,091 (GRCm39)	T24855A	possibly damaging	Het
Usp7	A	G	16: 8,512,977 (GRCm39)	V795A	probably damaging	Het
Wdr17	A	C	8: 55,112,614 (GRCm39)		probably benign	Het

Other mutations in 4933434E20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:4933434E20Rik	APN	3	89,971,809 (GRCm39)	missense	possibly damaging	0.82
IGL01984:4933434E20Rik	APN	3	89,970,537 (GRCm39)	missense	probably benign	0.00
IGL02005:4933434E20Rik	APN	3	89,965,927 (GRCm39)	missense	probably damaging	1.00
R0446:4933434E20Rik	UTSW	3	89,971,766 (GRCm39)	missense	probably benign	0.00
R1717:4933434E20Rik	UTSW	3	89,963,544 (GRCm39)	missense	probably benign	0.23
R1816:4933434E20Rik	UTSW	3	89,960,398 (GRCm39)	missense	possibly damaging	0.89
R2170:4933434E20Rik	UTSW	3	89,963,611 (GRCm39)	missense	probably benign	0.07
R2299:4933434E20Rik	UTSW	3	89,971,845 (GRCm39)	missense	possibly damaging	0.88
R2981:4933434E20Rik	UTSW	3	89,965,938 (GRCm39)	missense	probably benign	0.00
R3879:4933434E20Rik	UTSW	3	89,970,561 (GRCm39)	unclassified	probably benign
R4065:4933434E20Rik	UTSW	3	89,966,073 (GRCm39)	nonsense	probably null
R4724:4933434E20Rik	UTSW	3	89,960,890 (GRCm39)	missense	probably damaging	0.99
R4724:4933434E20Rik	UTSW	3	89,960,849 (GRCm39)	missense	probably damaging	1.00
R4724:4933434E20Rik	UTSW	3	89,960,848 (GRCm39)	missense	probably damaging	1.00
R4835:4933434E20Rik	UTSW	3	89,970,516 (GRCm39)	missense	probably benign	0.22
R5076:4933434E20Rik	UTSW	3	89,963,559 (GRCm39)	missense	probably benign	0.01
R6126:4933434E20Rik	UTSW	3	89,963,881 (GRCm39)	missense	probably damaging	0.98
R6337:4933434E20Rik	UTSW	3	89,969,040 (GRCm39)	missense	probably benign	0.03
R6562:4933434E20Rik	UTSW	3	89,970,543 (GRCm39)	missense	probably benign	0.38
R7312:4933434E20Rik	UTSW	3	89,969,021 (GRCm39)	missense	probably benign	0.07
R7316:4933434E20Rik	UTSW	3	89,969,020 (GRCm39)	missense	probably benign
R7473:4933434E20Rik	UTSW	3	89,965,960 (GRCm39)	critical splice donor site	probably null
R7990:4933434E20Rik	UTSW	3	89,970,549 (GRCm39)	missense	probably damaging	0.98
R8125:4933434E20Rik	UTSW	3	89,972,818 (GRCm39)	missense	possibly damaging	0.92
R9268:4933434E20Rik	UTSW	3	89,969,030 (GRCm39)	missense	possibly damaging	0.80

Posted On

2012-04-20