Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:4930578I06Rik'

641024

Institutional Source

Beutler Lab

Gene Symbol

4930578I06Rik

Ensembl Gene

ENSMUSG00000021961

Gene Name

RIKEN cDNA 4930578I06 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63969339-63987790 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63971395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 243 (E243K)

Ref Sequence

ENSEMBL: ENSMUSP00000022532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022532]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022532
AA Change: E243K

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022532
Gene: ENSMUSG00000021961
AA Change: E243K

Domain	Start	End	E-Value	Type
Pfam:CLAMP	28	137	1.6e-11	PFAM
low complexity region	260	270	N/A	INTRINSIC
low complexity region	284	298	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,866,078	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744	F90L	probably benign	Het
Adam5	G	A	8: 24,810,703	A270V	possibly damaging	Het
Angptl3	A	G	4: 99,031,311	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,647,166	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,241,155	M1K	probably null	Het
Arih1	T	A	9: 59,396,487	Q445L	probably benign	Het
Asb14	A	T	14: 26,912,097	I420L	probably benign	Het
Bbs2	A	C	8: 94,074,325	V626G	probably damaging	Het
BC089597	T	A	10: 127,876,995	D287E	probably damaging	Het
Cep290	C	A	10: 100,544,934	A1678D	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,759,166		probably benign	Het
Clca3b	T	A	3: 144,825,937	N702I	probably damaging	Het
Col24a1	T	C	3: 145,474,182	V1143A	probably benign	Het
Cux1	T	C	5: 136,360,009	T223A	probably benign	Het
Defa30	A	T	8: 21,135,459	T80S	probably benign	Het
Dennd1a	G	A	2: 37,858,081	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,623,787	T675I	probably damaging	Het
Emc9	A	G	14: 55,585,099	V4A	probably damaging	Het
Enpp3	C	G	10: 24,824,929		probably null	Het
Fam117b	A	G	1: 59,913,623	T154A	probably benign	Het
Filip1	G	T	9: 79,820,475	Y287*	probably null	Het
Flt3	T	C	5: 147,348,054	D751G	probably damaging	Het
Frem1	T	A	4: 82,999,989	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441		probably benign	Het
Gm7356	T	A	17: 14,001,437	Y110F	probably benign	Het
Igf2r	T	C	17: 12,733,860	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,840,222	E103D	probably benign	Het
Igsf11	C	A	16: 39,007,224	T48N	probably damaging	Het
Itpkc	A	T	7: 27,214,519	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,709,478	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,618,150	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,198	C563*	probably null	Het
Kcnu1	T	C	8: 25,891,990	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825	V45A	probably damaging	Het
Macf1	A	T	4: 123,395,621		probably benign	Het
Map3k19	T	A	1: 127,817,270	E1177D		Het
Mdn1	G	T	4: 32,725,107	L2575F	probably benign	Het
Mga	T	A	2: 119,946,319	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,450,779	Y161H	probably damaging	Het
Olfr119	T	A	17: 37,701,498	M276K	probably benign	Het
Olfr134	C	A	17: 38,175,573	T163K	probably damaging	Het
Olfr301	G	T	7: 86,412,779	C139F	probably damaging	Het
Pcdhb14	T	A	18: 37,450,022	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,910,409	V167G	probably damaging	Het
Plin5	T	C	17: 56,115,221	D146G	probably benign	Het
Plxna4	C	T	6: 32,211,065	G879R	possibly damaging	Het
Prss58	C	T	6: 40,895,660	A171T	probably benign	Het
Pum1	A	G	4: 130,771,920	I1016V	probably benign	Het
Rbm43	A	G	2: 51,926,700	V85A	probably damaging	Het
RP23-56A14.9	A	G	7: 142,135,623	C138R	unknown	Het
Rptor	T	A	11: 119,811,986	L393Q	probably damaging	Het
Sbf2	T	G	7: 110,371,618	H857P	possibly damaging	Het
Scn8a	A	C	15: 101,040,506	T1919P	probably benign	Het
Sema6b	C	T	17: 56,127,084	G377E	probably damaging	Het
Senp7	T	A	16: 56,155,240	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,473,585	I535F	probably benign	Het
Sptbn2	T	A	19: 4,729,130	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,254,931	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,226,436	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,640,669		probably benign	Het
Ttc23	A	C	7: 67,662,387	D14A	probably damaging	Het
Usp32	A	T	11: 85,032,185	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,890,652	H79Q	probably damaging	Het
Vps13d	A	G	4: 145,092,288	I3047T		Het
Zan	T	C	5: 137,450,551	E1680G	unknown	Het

Other mutations in 4930578I06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03085:4930578I06Rik	APN	14	63971432	missense	probably benign	0.14
R0372:4930578I06Rik	UTSW	14	63973482	missense	probably damaging	0.98
R0610:4930578I06Rik	UTSW	14	63986265	nonsense	probably null
R1055:4930578I06Rik	UTSW	14	63973275	missense	possibly damaging	0.69
R1671:4930578I06Rik	UTSW	14	63973188	missense	probably benign	0.41
R1888:4930578I06Rik	UTSW	14	63986183	missense	probably damaging	0.99
R1888:4930578I06Rik	UTSW	14	63986183	missense	probably damaging	0.99
R2327:4930578I06Rik	UTSW	14	63971120	splice site	probably null
R4243:4930578I06Rik	UTSW	14	63973209	missense	probably benign
R4256:4930578I06Rik	UTSW	14	63973209	missense	probably benign
R4257:4930578I06Rik	UTSW	14	63973209	missense	probably benign
R4354:4930578I06Rik	UTSW	14	63973209	missense	probably benign
R4863:4930578I06Rik	UTSW	14	63973209	missense	probably benign
R4864:4930578I06Rik	UTSW	14	63973209	missense	probably benign
R5786:4930578I06Rik	UTSW	14	63973242	missense	probably damaging	1.00
R6240:4930578I06Rik	UTSW	14	63986252	missense	probably damaging	1.00
R6849:4930578I06Rik	UTSW	14	63986238	missense	probably damaging	1.00
R6849:4930578I06Rik	UTSW	14	63986239	missense	probably benign	0.12
R8260:4930578I06Rik	UTSW	14	63986184	missense	probably benign	0.01
R8336:4930578I06Rik	UTSW	14	63986096	missense	probably benign
R8939:4930578I06Rik	UTSW	14	63987713	missense	probably benign	0.26
R9407:4930578I06Rik	UTSW	14	63986180	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTGAGCATGCCCCAAGTTG -3'
(R):5'- TGTCCACAGAAGATGGCCAC -3'

Sequencing Primer
(F):5'- GGTAGTCACCAGCCTCCTAC -3'
(R):5'- GAAGATGGCCACCACCAGG -3'

Posted On

2020-07-28