Mutagenetix > Incidental Mutation

Incidental Mutation 'R1816:4933434E20Rik'

204403

Institutional Source

Beutler Lab

Gene Symbol

4933434E20Rik

Ensembl Gene

ENSMUSG00000027942

Gene Name

RIKEN cDNA 4933434E20 gene

Synonyms

MMRRC Submission

039844-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89958941-89969754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89960398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 13 (V13A)

Ref Sequence

ENSEMBL: ENSMUSP00000123740 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029552
AA Change: V13A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: V13A

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: V13A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: V13A

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: V13A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: V13A

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: ENSMUST00000161918
AA Change: V13A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160640
AA Change: V13A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162114
AA Change: V13A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: V13A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162595

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: 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: 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: 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: 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: 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

0.4046

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,644,222 (GRCm39)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 106,436,491 (GRCm39)	V220E	possibly damaging	Het
Adam1b	T	G	5: 121,639,788 (GRCm39)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,784,028 (GRCm39)	V316A	probably benign	Het
Anks1	T	A	17: 28,205,547 (GRCm39)	D294E	probably damaging	Het
Atr	T	C	9: 95,748,747 (GRCm39)	S431P	probably benign	Het
Bfsp1	C	T	2: 143,683,599 (GRCm39)	A242T	probably benign	Het
Bptf	A	T	11: 106,951,405 (GRCm39)	V279E	probably damaging	Het
Camkk2	A	G	5: 122,872,243 (GRCm39)	L540P	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 17,805,690 (GRCm39)		probably null	Het
Cntnap5a	G	T	1: 116,356,618 (GRCm39)	A823S	probably benign	Het
Cp	T	C	3: 20,022,384 (GRCm39)		probably benign	Het
Dhx58	A	G	11: 100,593,978 (GRCm39)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Disp1	T	A	1: 182,880,139 (GRCm39)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,670,901 (GRCm39)		probably benign	Het
Eaf2	T	G	16: 36,628,371 (GRCm39)		probably benign	Het
Efna1	T	C	3: 89,183,694 (GRCm39)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,428,211 (GRCm39)	I462T	probably benign	Het
Fam83d	G	T	2: 158,610,070 (GRCm39)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,647,086 (GRCm39)		probably null	Het
Gm14226	A	T	2: 154,867,549 (GRCm39)	D502V	probably damaging	Het
Gm5117	T	A	8: 32,228,986 (GRCm39)		noncoding transcript	Het
Gm973	A	G	1: 59,621,558 (GRCm39)	N566S	probably damaging	Het
Grm7	A	T	6: 111,472,752 (GRCm39)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,489,585 (GRCm39)	T17I	possibly damaging	Het
Htt	C	T	5: 34,961,084 (GRCm39)	A237V	probably benign	Het
Itga6	T	C	2: 71,671,153 (GRCm39)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Mki67	T	C	7: 135,309,116 (GRCm39)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,286 (GRCm39)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Odam	A	G	5: 88,037,329 (GRCm39)		probably null	Het
Or1e33	T	C	11: 73,738,025 (GRCm39)	K309E	probably benign	Het
Or2ag13	A	T	7: 106,472,695 (GRCm39)	Y252*	probably null	Het
Or4p18	T	G	2: 88,232,943 (GRCm39)	I112L	possibly damaging	Het
Or5g29	G	T	2: 85,421,269 (GRCm39)	K128N	probably benign	Het
Or5p80	T	C	7: 108,229,364 (GRCm39)	L55P	probably damaging	Het
Or8k33	A	T	2: 86,384,011 (GRCm39)	C152*	probably null	Het
Pcm1	T	A	8: 41,762,574 (GRCm39)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,531,216 (GRCm39)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,908,088 (GRCm39)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,029,108 (GRCm39)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,391,635 (GRCm39)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,585,314 (GRCm39)	V1571I	probably benign	Het
Rfx2	C	A	17: 57,115,305 (GRCm39)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,857,928 (GRCm39)		probably null	Het
Slc22a12	G	A	19: 6,592,683 (GRCm39)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,242,056 (GRCm39)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,157,565 (GRCm39)	V48I	probably damaging	Het
Spata1	G	T	3: 146,186,962 (GRCm39)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,761,876 (GRCm39)	Q91*	probably null	Het
Stab1	T	C	14: 30,879,422 (GRCm39)	D686G	probably benign	Het
Stx8	T	A	11: 67,902,152 (GRCm39)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,279,436 (GRCm39)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,890,975 (GRCm39)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,890,976 (GRCm39)	E1051D	probably benign	Het
Thoc2l	A	G	5: 104,665,700 (GRCm39)	D74G	probably benign	Het
Tlr2	T	C	3: 83,745,516 (GRCm39)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,483,947 (GRCm39)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,016 (GRCm39)	H745R	probably benign	Het
Trappc14	A	G	5: 138,258,603 (GRCm39)	V548A	possibly damaging	Het
Ube2s	T	C	7: 4,814,554 (GRCm39)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,935,697 (GRCm39)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,049,785 (GRCm39)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,207,330 (GRCm39)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,386,939 (GRCm39)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zfp958	A	T	8: 4,679,147 (GRCm39)	I391F	possibly damaging	Het

Other mutations in 4933434E20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:4933434E20Rik	APN	3	89,960,400 (GRCm39)	missense	possibly damaging	0.65
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
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

Predicted Primers

PCR Primer
(F):5'- CACCATGTTTTCTGACGGACTC -3'
(R):5'- ACTGTCTACGGATACAATTCGG -3'

Sequencing Primer
(F):5'- TTCTGACGGACTCTAGCCTGG -3'
(R):5'- GTCTACGGATACAATTCGGAAGTCC -3'

Posted On

2014-06-23