Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:4933434E20Rik'

395749

Institutional Source

Beutler Lab

Gene Symbol

4933434E20Rik

Ensembl Gene

ENSMUSG00000027942

Gene Name

RIKEN cDNA 4933434E20 gene

Synonyms

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90051636-90068347 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90056252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 72 (I72V)

Ref Sequence

ENSEMBL: ENSMUSP00000124822 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029552
AA Change: I72V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: I72V

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

probably benign
Transcript: ENSMUST00000068798
AA Change: I72V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: I72V

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

probably benign
Transcript: ENSMUST00000159064
AA Change: I72V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: I72V

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

noncoding transcript
Transcript: ENSMUST00000160263

Predicted Effect

probably benign
Transcript: ENSMUST00000160640
AA Change: I72V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: I72V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161874

Predicted Effect

probably benign
Transcript: ENSMUST00000161918

SMART Domains

Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162114
AA Change: I72V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: I72V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162595

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

noncoding transcript
Transcript: ENSMUST00000198282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196568

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: 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

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: 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: 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: 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

Meta Mutation Damage Score

0.1084

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,909,318		probably null	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984	G493D	probably damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,506,264	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,681	F189S	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,648,584	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	probably damaging	Het

Other mutations in 4933434E20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:4933434E20Rik	APN	3	90053093	missense	possibly damaging	0.65
IGL01621:4933434E20Rik	APN	3	90064502	missense	possibly damaging	0.82
IGL01984:4933434E20Rik	APN	3	90063230	missense	probably benign	0.00
IGL02005:4933434E20Rik	APN	3	90058620	missense	probably damaging	1.00
R0446:4933434E20Rik	UTSW	3	90064459	missense	probably benign	0.00
R1717:4933434E20Rik	UTSW	3	90056237	missense	probably benign	0.23
R1816:4933434E20Rik	UTSW	3	90053091	missense	possibly damaging	0.89
R2170:4933434E20Rik	UTSW	3	90056304	missense	probably benign	0.07
R2299:4933434E20Rik	UTSW	3	90064538	missense	possibly damaging	0.88
R2981:4933434E20Rik	UTSW	3	90058631	missense	probably benign	0.00
R3879:4933434E20Rik	UTSW	3	90063254	unclassified	probably benign
R4065:4933434E20Rik	UTSW	3	90058766	nonsense	probably null
R4724:4933434E20Rik	UTSW	3	90053583	missense	probably damaging	0.99
R4724:4933434E20Rik	UTSW	3	90053541	missense	probably damaging	1.00
R4724:4933434E20Rik	UTSW	3	90053542	missense	probably damaging	1.00
R4835:4933434E20Rik	UTSW	3	90063209	missense	probably benign	0.22
R6126:4933434E20Rik	UTSW	3	90056574	missense	probably damaging	0.98
R6337:4933434E20Rik	UTSW	3	90061733	missense	probably benign	0.03
R6562:4933434E20Rik	UTSW	3	90063236	missense	probably benign	0.38
R7312:4933434E20Rik	UTSW	3	90061714	missense	probably benign	0.07
R7316:4933434E20Rik	UTSW	3	90061713	missense	probably benign
R7473:4933434E20Rik	UTSW	3	90058653	critical splice donor site	probably null
R7990:4933434E20Rik	UTSW	3	90063242	missense	probably damaging	0.98
R8125:4933434E20Rik	UTSW	3	90065511	missense	possibly damaging	0.92
R9268:4933434E20Rik	UTSW	3	90061723	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TCCTGAAGAGTGGATTGTGTATTAAAC -3'
(R):5'- CAGATAGTTGTAGCAACCTATTGAG -3'

Sequencing Primer
(F):5'- GGTACTCACTTTGTAGACCAGGC -3'
(R):5'- AGACTAGTCTTAGTGATCACTTGC -3'

Posted On

2016-06-21