Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:4933434E20Rik'

487380

Institutional Source

Beutler Lab

Gene Symbol

4933434E20Rik

Ensembl Gene

ENSMUSG00000027942

Gene Name

RIKEN cDNA 4933434E20 gene

Synonyms

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90051636-90068347 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90056574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 111 (R111H)

Ref Sequence

ENSEMBL: ENSMUSP00000124822 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029552
AA Change: R111H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: R111H

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

SMART Domains

Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942

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 damaging
Transcript: ENSMUST00000159064
AA Change: R111H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: R111H

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 damaging
Transcript: ENSMUST00000160640
AA Change: R111H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: R111H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161874

Predicted Effect

probably damaging
Transcript: ENSMUST00000162114
AA Change: R111H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: R111H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162390

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: 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: 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: 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: 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: 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

0.1896

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	G	A	17: 71,875,042	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dst	T	A	1: 34,228,183	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313	R72H	unknown	Het
Gm906	G	T	13: 50,246,290	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011		probably null	Het
Mnx1	G	T	5: 29,478,112	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887		probably null	Het
Olfr530	T	G	7: 140,373,253	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457		probably benign	Het
Panx1	T	A	9: 15,007,790	I258F	probably benign	Het
Pask	T	C	1: 93,314,359	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr1	A	C	7: 29,076,239	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Tex15	A	G	8: 33,573,563	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348		probably benign	Het
Zfp292	T	C	4: 34,808,497	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	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	90053541	missense	probably damaging	1.00
R4724:4933434E20Rik	UTSW	3	90053542	missense	probably damaging	1.00
R4724:4933434E20Rik	UTSW	3	90053583	missense	probably damaging	0.99
R4835:4933434E20Rik	UTSW	3	90063209	missense	probably benign	0.22
R5076:4933434E20Rik	UTSW	3	90056252	missense	probably benign	0.01
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'- TGAGGAGTCCCACAGCTTTAG -3'
(R):5'- ACAGAGCAAACTGAGGTGATTT -3'

Sequencing Primer
(F):5'- GAGGAGTCCCACAGCTTTAGAATTC -3'
(R):5'- GATGTCCCAGAACTGCCTTAGTAG -3'

Posted On

2017-10-10