Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:5730455P16Rik'

175966

Institutional Source

Beutler Lab

Gene Symbol

5730455P16Rik

Ensembl Gene

ENSMUSG00000057181

Gene Name

RIKEN cDNA 5730455P16 gene

Synonyms

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80251318-80268860 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 80254838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 328 (Q328*)

Ref Sequence

ENSEMBL: ENSMUSP00000135972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103225] [ENSMUST00000179332]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000103225
AA Change: Q328*

SMART Domains

Protein: ENSMUSP00000099515
Gene: ENSMUSG00000057181
AA Change: Q328*

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
Pfam:Njmu-R1	38	390	1.5e-204	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149614

Predicted Effect

probably null
Transcript: ENSMUST00000179332
AA Change: Q328*

SMART Domains

Protein: ENSMUSP00000135972
Gene: ENSMUSG00000057181
AA Change: Q328*

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
Pfam:Njmu-R1	38	391	5.9e-231	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	A	4: 144,396,994 (GRCm39)	K246I	possibly damaging	Het
Adamts1	G	A	16: 85,595,399 (GRCm39)	Q260*	probably null	Het
Add2	A	T	6: 86,075,628 (GRCm39)	Y259F	probably benign	Het
Bora	T	C	14: 99,305,840 (GRCm39)	V403A	probably benign	Het
Ccnl1	G	A	3: 65,854,191 (GRCm39)	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,708,961 (GRCm39)		probably null	Het
Cdr2l	T	C	11: 115,284,203 (GRCm39)	S180P	probably damaging	Het
Cep290	T	A	10: 100,385,191 (GRCm39)	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,869,453 (GRCm39)	V208A	probably damaging	Het
Col2a1	T	C	15: 97,877,131 (GRCm39)	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,300,864 (GRCm39)	N154K	possibly damaging	Het
Cubn	T	A	2: 13,474,600 (GRCm39)	R401S	probably benign	Het
Cul7	A	T	17: 46,974,017 (GRCm39)	Q1434L	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dars1	G	T	1: 128,301,709 (GRCm39)	D308E	probably benign	Het
Dna2	T	A	10: 62,797,436 (GRCm39)	F604I	probably damaging	Het
Dnah1	T	G	14: 31,023,219 (GRCm39)	I1033L	probably benign	Het
Erlin1	T	C	19: 44,036,112 (GRCm39)	E206G	probably damaging	Het
Esrp2	T	A	8: 106,859,905 (GRCm39)	E345D	probably damaging	Het
Foxa1	T	C	12: 57,589,473 (GRCm39)	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,426,426 (GRCm39)	L161M	probably benign	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gpr155	C	A	2: 73,200,434 (GRCm39)	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Hydin	T	A	8: 111,137,306 (GRCm39)	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,341,417 (GRCm39)	V170A	probably damaging	Het
Klhl31	A	T	9: 77,558,298 (GRCm39)	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,620,876 (GRCm39)	A124T	probably benign	Het
Krt72	T	A	15: 101,688,688 (GRCm39)	I331F	probably benign	Het
Lrp1b	T	A	2: 41,401,490 (GRCm39)	D388V	probably damaging	Het
Ly9	A	G	1: 171,424,075 (GRCm39)	V382A	probably benign	Het
Mon2	T	C	10: 122,852,301 (GRCm39)	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,287,818 (GRCm39)	F572L	probably damaging	Het
Myh3	A	T	11: 66,983,997 (GRCm39)	D987V	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nphp4	A	G	4: 152,646,547 (GRCm39)	T1360A	probably benign	Het
Oog4	A	G	4: 143,164,571 (GRCm39)	L320P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5m9	C	T	2: 85,877,657 (GRCm39)	T277I	probably damaging	Het
Or5w8	T	A	2: 87,688,095 (GRCm39)	I192K	probably benign	Het
Pcnx2	T	C	8: 126,498,825 (GRCm39)	N1558S	probably benign	Het
Pde10a	A	G	17: 9,147,976 (GRCm39)	E147G	probably damaging	Het
Pgbd5	T	A	8: 125,101,026 (GRCm39)	H410L	probably benign	Het
Plce1	A	C	19: 38,709,440 (GRCm39)	D1098A	probably damaging	Het
Psg25	G	A	7: 18,265,928 (GRCm39)	Q16*	probably null	Het
Psmd9	T	A	5: 123,379,980 (GRCm39)	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,451,911 (GRCm39)	S937F	probably damaging	Het
Rbck1	A	G	2: 152,165,090 (GRCm39)		probably null	Het
Rprd2	C	G	3: 95,726,051 (GRCm39)		probably benign	Het
Rrs1	A	G	1: 9,616,137 (GRCm39)	N130S	probably benign	Het
Scmh1	A	T	4: 120,372,327 (GRCm39)	I377F	possibly damaging	Het
Skor1	G	T	9: 63,053,286 (GRCm39)	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,835,844 (GRCm39)	V335A	probably benign	Het
Slc4a9	G	A	18: 36,661,424 (GRCm39)	W62*	probably null	Het
Styxl2	G	A	1: 165,937,828 (GRCm39)	T77I	probably benign	Het
Taar9	G	T	10: 23,985,305 (GRCm39)	A43D	possibly damaging	Het
Tns4	T	C	11: 98,961,243 (GRCm39)	Y645C	probably damaging	Het
Tpcn2	G	T	7: 144,830,957 (GRCm39)	Y129*	probably null	Het
Trpm3	T	C	19: 22,710,388 (GRCm39)	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,223,156 (GRCm39)	W615R	probably damaging	Het
Ttll5	T	C	12: 85,910,372 (GRCm39)	V207A	probably damaging	Het
Ubr7	G	T	12: 102,736,153 (GRCm39)	M358I	probably damaging	Het
Urb1	C	A	16: 90,574,328 (GRCm39)	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 9,839,432 (GRCm39)	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,672,575 (GRCm39)	I771F	probably benign	Het
Wfdc16	T	C	2: 164,477,350 (GRCm39)	S107G	probably benign	Het
Zmym2	A	G	14: 57,140,226 (GRCm39)	T22A	possibly damaging	Het
Zmym2	G	A	14: 57,151,524 (GRCm39)	G470R	probably damaging	Het

Other mutations in 5730455P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:5730455P16Rik	APN	11	80,267,638 (GRCm39)	missense	possibly damaging	0.90
IGL03096:5730455P16Rik	APN	11	80,265,005 (GRCm39)	missense	probably damaging	1.00
PIT4431001:5730455P16Rik	UTSW	11	80,254,750 (GRCm39)	missense	probably damaging	1.00
R0383:5730455P16Rik	UTSW	11	80,254,767 (GRCm39)	nonsense	probably null
R0635:5730455P16Rik	UTSW	11	80,264,891 (GRCm39)	splice site	probably benign
R1376:5730455P16Rik	UTSW	11	80,254,735 (GRCm39)	missense	possibly damaging	0.90
R1376:5730455P16Rik	UTSW	11	80,254,735 (GRCm39)	missense	possibly damaging	0.90
R1953:5730455P16Rik	UTSW	11	80,268,772 (GRCm39)	missense	probably damaging	1.00
R3236:5730455P16Rik	UTSW	11	80,258,996 (GRCm39)	missense	probably damaging	1.00
R4056:5730455P16Rik	UTSW	11	80,266,329 (GRCm39)	splice site	probably benign
R4612:5730455P16Rik	UTSW	11	80,268,806 (GRCm39)	start codon destroyed	probably null	0.90
R4777:5730455P16Rik	UTSW	11	80,265,041 (GRCm39)	missense	probably damaging	1.00
R4820:5730455P16Rik	UTSW	11	80,266,346 (GRCm39)	missense	possibly damaging	0.63
R4847:5730455P16Rik	UTSW	11	80,264,940 (GRCm39)	missense	probably damaging	1.00
R5489:5730455P16Rik	UTSW	11	80,268,778 (GRCm39)	start codon destroyed	probably null
R7125:5730455P16Rik	UTSW	11	80,255,751 (GRCm39)	missense	probably damaging	0.97
R8049:5730455P16Rik	UTSW	11	80,268,798 (GRCm39)	missense	possibly damaging	0.86
R9600:5730455P16Rik	UTSW	11	80,261,197 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTTGGCCTCGGGCATTTCTT -3'
(R):5'- GCGTGTGATTTCATTTCCACCACTTT -3'

Sequencing Primer
(F):5'- GGGCATTTCTTCATGTTCCAC -3'
(R):5'- TCAGCTAGAGACGGGGTATT -3'

Posted On

2014-04-24