Mutagenetix > Incidental Mutation

Incidental Mutation 'R0587:2310061I04Rik'

55822

Institutional Source

Beutler Lab

Gene Symbol

2310061I04Rik

Ensembl Gene

ENSMUSG00000050705

Gene Name

RIKEN cDNA 2310061I04 gene

Synonyms

MMRRC Submission

038777-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R0587 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

36203569-36208270 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 36203855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 212 (*212W)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000146451] [ENSMUST00000148721] [ENSMUST00000148482] [ENSMUST00000150056] [ENSMUST00000156817] [ENSMUST00000149277] [ENSMUST00000174366]

AlphaFold

B8JJ69

Predicted Effect

probably benign
Transcript: ENSMUST00000025292

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	55	310	6e-57	BLAST
DEXDc	400	585	7.26e-33	SMART
HELICc	636	733	1.7e-15	SMART
HA2	794	885	2.24e-31	SMART
Pfam:OB_NTP_bind	901	1018	3.6e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000059740
AA Change: *212W

SMART Domains

Protein: ENSMUSP00000050693
Gene: ENSMUSG00000050705
AA Change: *212W

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
Pfam:DUF2358	75	200	5.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061052

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	74	191	1.5e-53	PFAM
Pfam:Acetyltransf_1	88	157	6.8e-5	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077494

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126744

SMART Domains

Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
Pfam:Mec-17	1	83	2.7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143114

Predicted Effect

probably benign
Transcript: ENSMUST00000146451
AA Change: M197V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115771
Gene: ENSMUSG00000050705
AA Change: M197V

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	191	1.5e-35	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148721
AA Change: M280V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116278
Gene: ENSMUSG00000050705
AA Change: M280V

Domain	Start	End	E-Value	Type
low complexity region	28	79	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF2358	149	274	1.4e-36	PFAM
low complexity region	289	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148482
AA Change: M197V

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114151
Gene: ENSMUSG00000050705
AA Change: M197V

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	191	1.5e-35	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173596

Predicted Effect

probably benign
Transcript: ENSMUST00000173967

SMART Domains

Protein: ENSMUSP00000133818
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	2	83	5e-35	BLAST
PDB:3I4U\|A	4	83	6e-14	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154670

SMART Domains

Protein: ENSMUSP00000123547
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
Pfam:DUF2358	2	97	7.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150056

SMART Domains

Protein: ENSMUSP00000121142
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	130	5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156817

SMART Domains

Protein: ENSMUSP00000114851
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	16	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149277

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174449

Predicted Effect

probably benign
Transcript: ENSMUST00000174366

SMART Domains

Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	55	310	9e-58	BLAST
DEXDc	400	585	7.26e-33	SMART

Meta Mutation Damage Score

0.9752

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

94% (34/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,107,035 (GRCm39)	Y231H	probably benign	Het
Abca5	T	G	11: 110,202,203 (GRCm39)	I401L	probably benign	Het
Ak2	A	G	4: 128,896,171 (GRCm39)	D112G	probably damaging	Het
Ankrd60	T	A	2: 173,410,644 (GRCm39)	D292V	possibly damaging	Het
Bank1	A	G	3: 135,919,798 (GRCm39)		probably benign	Het
Bod1l	G	A	5: 41,978,980 (GRCm39)	S778L	probably benign	Het
Cep76	C	A	18: 67,756,245 (GRCm39)	E529*	probably null	Het
Col24a1	T	C	3: 144,998,906 (GRCm39)	V13A	possibly damaging	Het
Ctsc	T	A	7: 87,946,437 (GRCm39)	H154Q	probably benign	Het
Ctsf	A	G	19: 4,905,766 (GRCm39)	E87G	probably benign	Het
Dmxl1	A	T	18: 50,068,374 (GRCm39)	T2716S	probably benign	Het
Espl1	A	G	15: 102,212,382 (GRCm39)		probably benign	Het
Fcsk	T	A	8: 111,609,957 (GRCm39)	Q1019L	probably damaging	Het
Hnrnpul1	T	A	7: 25,444,657 (GRCm39)	Y217F	possibly damaging	Het
Kmt2a	A	T	9: 44,758,831 (GRCm39)	M1039K	probably damaging	Het
Large1	T	C	8: 73,585,961 (GRCm39)	N382D	probably damaging	Het
Madd	A	G	2: 90,977,230 (GRCm39)	V1402A	probably damaging	Het
Mlh3	C	T	12: 85,313,193 (GRCm39)	V998M	probably benign	Het
Myo1c	A	G	11: 75,548,616 (GRCm39)	Y71C	probably damaging	Het
Myt1l	G	A	12: 29,861,634 (GRCm39)	D139N	unknown	Het
Nes	C	A	3: 87,885,876 (GRCm39)	H1378Q	probably benign	Het
Or4c12	T	C	2: 89,773,736 (GRCm39)	H241R	probably damaging	Het
Otud6b	T	C	4: 14,815,661 (GRCm39)	E243G	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Pcm1	G	T	8: 41,739,088 (GRCm39)	R912L	probably damaging	Het
Piezo2	A	G	18: 63,155,497 (GRCm39)	I2449T	possibly damaging	Het
Slc12a5	G	A	2: 164,818,453 (GRCm39)	M217I	probably damaging	Het
Sorl1	C	A	9: 41,895,802 (GRCm39)	W1784C	probably damaging	Het
Spatc1l	A	G	10: 76,400,011 (GRCm39)	R178G	possibly damaging	Het
Strada	A	C	11: 106,061,790 (GRCm39)	Y154D	probably damaging	Het
Syt6	A	G	3: 103,532,887 (GRCm39)	T424A	probably damaging	Het
Tbx1	C	T	16: 18,402,243 (GRCm39)	A245T	possibly damaging	Het
Tmem143	T	C	7: 45,556,478 (GRCm39)	L161P	probably damaging	Het

Other mutations in 2310061I04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0098:2310061I04Rik	UTSW	17	36,207,309 (GRCm39)	unclassified	probably benign
R0432:2310061I04Rik	UTSW	17	36,206,708 (GRCm39)	missense	probably damaging	1.00
R1807:2310061I04Rik	UTSW	17	36,205,961 (GRCm39)	nonsense	probably null
R4675:2310061I04Rik	UTSW	17	36,203,820 (GRCm39)	missense	probably damaging	1.00
R7601:2310061I04Rik	UTSW	17	36,206,741 (GRCm39)	missense	probably damaging	0.98
R9117:2310061I04Rik	UTSW	17	36,203,963 (GRCm39)	missense	probably benign	0.32
R9119:2310061I04Rik	UTSW	17	36,203,963 (GRCm39)	missense	probably benign	0.32
R9122:2310061I04Rik	UTSW	17	36,203,963 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TAGCAGTCCTCAGTGCAGCCTTTC -3'
(R):5'- GAGCTTAGCCCTGATCTTTGGTCC -3'

Sequencing Primer
(F):5'- AGTGCAGCCTTTCACCCAC -3'
(R):5'- GTGGCCTATTGACACTGAAAAC -3'

Posted On

2013-07-11