Mutagenetix > Incidental Mutations

Incidental Mutation 'R1270:E330021D16Rik'

151271

Institutional Source

Beutler Lab

Gene Symbol

E330021D16Rik

Ensembl Gene

ENSMUSG00000045291

Gene Name

RIKEN cDNA E330021D16 gene

Synonyms

MMRRC Submission

039336-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R1270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136400317-136415569 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136401787 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 15 (I15N)

Ref Sequence

ENSEMBL: ENSMUSP00000144858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058713] [ENSMUST00000203392] [ENSMUST00000204830]

AlphaFold

Q8BW45

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058713
AA Change: I15N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: I15N

Domain	Start	End	E-Value	Type
Blast:RWD	7	135	7e-63	BLAST
low complexity region	157	168	N/A	INTRINSIC
UBCc	204	364	2.33e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203392
AA Change: I15N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144858
Gene: ENSMUSG00000045291
AA Change: I15N

Domain	Start	End	E-Value	Type
Pfam:RWD	1	110	8.9e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204830
AA Change: I15N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: I15N

Domain	Start	End	E-Value	Type
Blast:RWD	7	135	7e-63	BLAST
low complexity region	157	168	N/A	INTRINSIC
UBCc	204	364	2.33e-5	SMART

Meta Mutation Damage Score

0.4083

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,952,184	H1662Q	probably damaging	Het
Abcc3	C	T	11: 94,357,384	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,527,669	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,281,706	L301V	probably benign	Het
Alg9	A	G	9: 50,787,572		probably benign	Het
Aspg	C	T	12: 112,116,447	T187I	probably damaging	Het
C4a	A	G	17: 34,814,528		noncoding transcript	Het
Cdh2	T	G	18: 16,627,557		probably benign	Het
Ceacam1	T	C	7: 25,466,314		probably null	Het
Cep250	G	A	2: 155,990,681	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 24,857,338	S248P	probably benign	Het
Dgkd	A	T	1: 87,934,125	M801L	probably damaging	Het
Edc4	A	G	8: 105,891,264	E1152G	possibly damaging	Het
Enkd1	A	G	8: 105,703,901	I334T	probably damaging	Het
Gli3	C	T	13: 15,723,744	A803V	probably benign	Het
Glrx3	A	G	7: 137,453,414	N95S	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kank2	A	T	9: 21,772,760	N724K	probably damaging	Het
Kctd20	A	G	17: 28,966,931	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,793,828	E645G	probably damaging	Het
Mrgpra9	A	T	7: 47,252,783		probably null	Het
Muc1	T	A	3: 89,232,107	Y605N	probably damaging	Het
Olfr1256	C	T	2: 89,835,322	V208M	possibly damaging	Het
Olfr146	A	C	9: 39,019,247	I98R	possibly damaging	Het
Prx	T	A	7: 27,518,930	I952N	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Skint5	A	T	4: 113,942,659	Y90*	probably null	Het
Swt1	A	T	1: 151,384,391	N752K	probably benign	Het
Taar1	T	C	10: 23,920,533	V43A	probably damaging	Het
Tenm2	T	C	11: 36,041,659	N1702D	probably damaging	Het
Tff2	C	T	17: 31,144,169		probably null	Het
Trim2	G	A	3: 84,167,677	A686V	probably damaging	Het

Other mutations in E330021D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:E330021D16Rik	APN	6	136400998	missense	possibly damaging	0.53
IGL01701:E330021D16Rik	APN	6	136400806	missense	probably damaging	0.99
IGL02194:E330021D16Rik	APN	6	136401058	missense	probably benign	0.00
IGL03266:E330021D16Rik	APN	6	136400923	missense	probably damaging	1.00
R1893:E330021D16Rik	UTSW	6	136401827	missense	possibly damaging	0.92
R4192:E330021D16Rik	UTSW	6	136401437	missense	probably benign	0.06
R5371:E330021D16Rik	UTSW	6	136401373	missense	probably benign	0.02
R6418:E330021D16Rik	UTSW	6	136401101	missense	probably damaging	1.00
R6999:E330021D16Rik	UTSW	6	136401274	missense	probably benign	0.01
R7035:E330021D16Rik	UTSW	6	136401349	missense	possibly damaging	0.77
R7316:E330021D16Rik	UTSW	6	136401278	missense	possibly damaging	0.92
R8125:E330021D16Rik	UTSW	6	136401186	missense	possibly damaging	0.72
R8179:E330021D16Rik	UTSW	6	136401242	missense	probably damaging	1.00
R8222:E330021D16Rik	UTSW	6	136400884	missense	probably damaging	0.97
R8225:E330021D16Rik	UTSW	6	136401112	missense	probably damaging	1.00
R8421:E330021D16Rik	UTSW	6	136401352	missense	probably damaging	0.97
R8784:E330021D16Rik	UTSW	6	136401731	nonsense	probably null
R9080:E330021D16Rik	UTSW	6	136400722	missense	probably damaging	1.00
R9103:E330021D16Rik	UTSW	6	136401013	missense	probably benign	0.39
R9279:E330021D16Rik	UTSW	6	136400980	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGAGCTGCTGACTAAGCGAAC -3'
(R):5'- GCCTATTGCCTGGCTAAGAGACAAC -3'

Sequencing Primer
(F):5'- GCTGACTAAGCGAACTGTCTG -3'
(R):5'- CCTCTTGGGAAGATGGATTCTCC -3'

Posted On

2014-01-29