Mutagenetix > Incidental Mutation

Incidental Mutation 'R3417:4930435E12Rik'

266869

Institutional Source

Beutler Lab

Gene Symbol

4930435E12Rik

Ensembl Gene

ENSMUSG00000022798

Gene Name

RIKEN cDNA 4930435E12 gene

Synonyms

MMRRC Submission

040635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38812206-38828749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38828740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2 (D2E)

Ref Sequence

ENSEMBL: ENSMUSP00000113120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122078]

AlphaFold

A6X8Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000122078
AA Change: D2E

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: D2E

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
low complexity region	307	317	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209595

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,405,552		probably benign	Het
Adgrl2	T	C	3: 148,859,329	Y201C	probably damaging	Het
Ankar	A	G	1: 72,658,976		probably null	Het
Ankrd17	G	A	5: 90,243,913	T1857I	possibly damaging	Het
Atp6v0d2	A	G	4: 19,888,829		probably benign	Het
Cep170	G	T	1: 176,756,044	P923Q	probably damaging	Het
Cfc1	A	T	1: 34,536,376	R44*	probably null	Het
Col6a1	C	T	10: 76,712,369	V618M	unknown	Het
Crmp1	A	T	5: 37,268,687	I159L	possibly damaging	Het
Crocc	G	A	4: 141,046,447	T103I	possibly damaging	Het
Cyp4f39	T	C	17: 32,489,742	V421A	possibly damaging	Het
Ero1l	T	C	14: 45,287,866	T401A	possibly damaging	Het
Exoc6b	C	G	6: 84,890,565	L288F	possibly damaging	Het
Fsip2	G	A	2: 82,986,510	V4196I	possibly damaging	Het
Gm884	A	T	11: 103,614,609	S2178T	possibly damaging	Het
Icosl	A	T	10: 78,072,035	N143I	possibly damaging	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Jrk	A	G	15: 74,706,885	Y184H	probably damaging	Het
Kdm5b	T	C	1: 134,587,977	L113P	probably damaging	Het
Klhl42	G	A	6: 147,107,880	V406M	probably damaging	Het
Lrp12	A	G	15: 39,878,282	F365L	probably damaging	Het
Map4k5	A	T	12: 69,809,264	V716E	probably damaging	Het
Mcm9	T	C	10: 53,537,407	T1264A	possibly damaging	Het
Mia3	T	A	1: 183,362,100	D100V	probably damaging	Het
Mrgprb2	C	A	7: 48,552,533	R148L	probably damaging	Het
Mrvi1	T	C	7: 110,876,954	T597A	possibly damaging	Het
Mterf1a	A	G	5: 3,890,795	S358P	probably damaging	Het
Myd88	T	C	9: 119,337,490	I253V	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nqo2	G	T	13: 33,979,633	V92L	probably benign	Het
Olfr730	T	A	14: 50,186,612	T202S	possibly damaging	Het
Pcdhb15	A	T	18: 37,475,163	N483Y	probably damaging	Het
Pds5a	A	G	5: 65,637,892	F667S	probably damaging	Het
Plxnb1	C	A	9: 109,100,760	A228E	probably damaging	Het
Prpsap1	T	C	11: 116,478,584	S179G	probably benign	Het
Rtl4	C	T	X: 145,119,905	Q108*	probably null	Het
Scn8a	A	G	15: 100,971,668		probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc44a1	G	A	4: 53,553,549	V519I	probably benign	Het
Smg1	G	C	7: 118,148,853		probably benign	Het
Sptlc2	A	G	12: 87,346,808		probably benign	Het
St13	A	T	15: 81,369,450		probably benign	Het
Strbp	C	G	2: 37,590,725	R610T	possibly damaging	Het
Tas2r124	A	T	6: 132,755,638	R303S	probably benign	Het
Tgm3	G	A	2: 130,047,772	V629M	possibly damaging	Het
Tnr	T	C	1: 159,895,042	V1019A	probably benign	Het
Ttn	A	T	2: 76,785,564	C14932*	probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het

Other mutations in 4930435E12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:4930435E12Rik	APN	16	38827893	missense	possibly damaging	0.61
IGL01998:4930435E12Rik	APN	16	38828224	missense	probably benign	0.00
IGL02454:4930435E12Rik	APN	16	38827947	missense	probably benign	0.02
IGL03216:4930435E12Rik	APN	16	38828690	missense	possibly damaging	0.59
IGL03325:4930435E12Rik	APN	16	38827993	missense	probably damaging	1.00
IGL03397:4930435E12Rik	APN	16	38828693	missense	probably damaging	1.00
R7924_4930435E12Rik_239	UTSW	16	38812464	nonsense	probably null
BB001:4930435E12Rik	UTSW	16	38812464	nonsense	probably null
BB011:4930435E12Rik	UTSW	16	38812464	nonsense	probably null
R0242:4930435E12Rik	UTSW	16	38824567	splice site	probably benign
R0446:4930435E12Rik	UTSW	16	38828702	missense	probably benign	0.01
R0607:4930435E12Rik	UTSW	16	38828364	missense	probably benign	0.02
R1918:4930435E12Rik	UTSW	16	38828088	missense	possibly damaging	0.56
R1953:4930435E12Rik	UTSW	16	38827913	missense	possibly damaging	0.78
R4601:4930435E12Rik	UTSW	16	38828018	missense	probably benign	0.14
R4860:4930435E12Rik	UTSW	16	38828145	missense	probably damaging	0.97
R4860:4930435E12Rik	UTSW	16	38828145	missense	probably damaging	0.97
R5551:4930435E12Rik	UTSW	16	38827974	missense	probably benign	0.28
R7568:4930435E12Rik	UTSW	16	38828447	missense	possibly damaging	0.95
R7623:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7643:4930435E12Rik	UTSW	16	38827863	missense	probably benign	0.15
R7669:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7670:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7671:4930435E12Rik	UTSW	16	38828091	missense	possibly damaging	0.87
R7924:4930435E12Rik	UTSW	16	38812464	nonsense	probably null
R9385:4930435E12Rik	UTSW	16	38828045	missense	probably benign	0.11
RF013:4930435E12Rik	UTSW	16	38828001	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CTTCGGCCAGTCTGTCTAGAAC -3'
(R):5'- ACTTGCTCGTCCATTGGCAG -3'

Sequencing Primer
(F):5'- CAGTCTGTCTAGAACCTGCATTGG -3'
(R):5'- CCATTGGCAGTCTTCCTTTGTGAG -3'

Posted On

2015-02-18