Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:4930452B06Rik'

176752

Institutional Source

Beutler Lab

Gene Symbol

4930452B06Rik

Ensembl Gene

ENSMUSG00000021747

Gene Name

RIKEN cDNA 4930452B06 gene

Synonyms

MMRRC Submission

039647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8431192-8666240 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8511110 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 435 (H435N)

Ref Sequence

ENSEMBL: ENSMUSP00000100061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102996]

AlphaFold

Q6P2K3

Predicted Effect

probably benign
Transcript: ENSMUST00000102996
AA Change: H435N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: H435N

Domain	Start	End	E-Value	Type
Pfam:DUF667	1	188	1.7e-43	PFAM
low complexity region	344	358	N/A	INTRINSIC
low complexity region	506	519	N/A	INTRINSIC
low complexity region	568	578	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225744

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	G	T	6: 96,165,289	P258Q	probably damaging	Het
Acbd5	G	A	2: 23,090,551	C312Y	probably damaging	Het
Adgrl1	T	A	8: 83,932,373	M601K	probably benign	Het
Agbl4	G	A	4: 111,657,168	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Casz1	C	T	4: 148,929,087	A36V	possibly damaging	Het
Chpf	A	G	1: 75,476,648	V327A	probably damaging	Het
Cldn23	A	G	8: 35,825,930	Y135H	probably damaging	Het
Cobll1	C	T	2: 65,133,642	D211N	probably damaging	Het
Cramp1l	A	G	17: 24,983,951	V368A	probably benign	Het
Dnah6	T	C	6: 73,144,963	T1374A	probably benign	Het
Dpyd	A	G	3: 119,065,006	H623R	probably benign	Het
Dyrk2	T	C	10: 118,859,925	N476S	probably benign	Het
Endog	A	T	2: 30,173,887	I267F	probably damaging	Het
Ephb6	A	T	6: 41,614,373	K155*	probably null	Het
Far2	T	C	6: 148,157,458	V214A	possibly damaging	Het
Fat2	A	G	11: 55,278,924	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,531,288	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,996,179	T349S	probably benign	Het
Golgb1	A	G	16: 36,926,101	T2951A	probably benign	Het
Hc	G	T	2: 35,006,161	D1203E	probably benign	Het
Isg20	C	A	7: 78,914,509	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,114,103	A152E	probably damaging	Het
Kcnq3	T	C	15: 66,025,260	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,457,461	T463P	probably damaging	Het
Klra8	A	G	6: 130,119,018	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,214,875	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,194,136	T30A	possibly damaging	Het
Lig1	T	A	7: 13,285,340	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,612	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,452,993	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,407,448	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582	T137A	probably benign	Het
Nfatc2ip	A	T	7: 126,387,407	S359T	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1193	A	T	2: 88,678,574	K233*	probably null	Het
Olfr1229	T	C	2: 89,282,821	H104R	probably damaging	Het
Olfr514	T	A	7: 108,825,924	H25L	probably benign	Het
Olfr904	C	T	9: 38,464,631	L197F	probably damaging	Het
Plagl1	C	T	10: 13,128,962		probably benign	Het
Plxnb2	A	T	15: 89,158,493	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,902,196		probably null	Het
Rtn1	T	A	12: 72,219,279	Q174L	possibly damaging	Het
Selenoo	A	G	15: 89,099,916	E645G	probably benign	Het
Serpina1a	A	C	12: 103,853,837	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,668,225	Y345F	probably benign	Het
Smbd1	A	G	16: 32,806,765	V51A	possibly damaging	Het
Tchh	C	T	3: 93,444,839	R529W	unknown	Het
Tmem206	A	G	1: 191,345,065	D195G	probably benign	Het
Tonsl	A	T	15: 76,638,557	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,516,059	T344I	probably damaging	Het
Ubash3b	C	A	9: 41,043,500	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,243,733	V765A	probably damaging	Het
Zfp474	C	T	18: 52,638,365	T30I	probably benign	Het

Other mutations in 4930452B06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:4930452B06Rik	APN	14	8473370	missense	possibly damaging	0.57
IGL02010:4930452B06Rik	APN	14	8578384	missense	possibly damaging	0.68
IGL02385:4930452B06Rik	APN	14	8510920	missense	possibly damaging	0.59
IGL02431:4930452B06Rik	APN	14	8659424	missense	probably damaging	1.00
IGL02723:4930452B06Rik	APN	14	8516507	missense	probably benign	0.02
IGL02865:4930452B06Rik	APN	14	8517940	missense	probably benign	0.00
IGL03030:4930452B06Rik	APN	14	8511113	missense	probably damaging	1.00
IGL03204:4930452B06Rik	APN	14	8644436	missense	possibly damaging	0.68
IGL03014:4930452B06Rik	UTSW	14	8431608	makesense	probably null
R0197:4930452B06Rik	UTSW	14	8518695	missense	probably damaging	1.00
R0265:4930452B06Rik	UTSW	14	8431667	missense	probably damaging	1.00
R0513:4930452B06Rik	UTSW	14	8536609	missense	probably damaging	1.00
R0647:4930452B06Rik	UTSW	14	8536655	missense	possibly damaging	0.94
R1168:4930452B06Rik	UTSW	14	8442939	missense	probably benign	0.22
R1625:4930452B06Rik	UTSW	14	8431668	missense	probably damaging	1.00
R2010:4930452B06Rik	UTSW	14	8511021	missense	probably damaging	1.00
R2084:4930452B06Rik	UTSW	14	8558171	missense	probably damaging	1.00
R2174:4930452B06Rik	UTSW	14	8558109	missense	probably benign	0.02
R3802:4930452B06Rik	UTSW	14	8510931	missense	probably benign	0.00
R4244:4930452B06Rik	UTSW	14	8482521	missense	probably benign	0.00
R4471:4930452B06Rik	UTSW	14	8536571	missense	probably damaging	1.00
R4516:4930452B06Rik	UTSW	14	8536609	missense	probably damaging	1.00
R4824:4930452B06Rik	UTSW	14	8665997	start codon destroyed	probably null	0.93
R4884:4930452B06Rik	UTSW	14	8578394	missense	probably damaging	0.97
R4975:4930452B06Rik	UTSW	14	8518736	missense	probably benign	0.00
R5455:4930452B06Rik	UTSW	14	8536516	critical splice donor site	probably null
R6280:4930452B06Rik	UTSW	14	8473414	critical splice acceptor site	probably null
R6438:4930452B06Rik	UTSW	14	8431701	missense	probably damaging	0.98
R6639:4930452B06Rik	UTSW	14	8536530	missense	probably benign	0.12
R7101:4930452B06Rik	UTSW	14	8511171	missense	possibly damaging	0.75
R7456:4930452B06Rik	UTSW	14	8442933	nonsense	probably null
R8266:4930452B06Rik	UTSW	14	8482599	nonsense	probably null
R8854:4930452B06Rik	UTSW	14	8518638	missense	probably damaging	1.00
R9053:4930452B06Rik	UTSW	14	8518768	critical splice acceptor site	probably null
R9157:4930452B06Rik	UTSW	14	8518635	missense	probably benign	0.00
R9294:4930452B06Rik	UTSW	14	8578361	missense	possibly damaging	0.84
R9313:4930452B06Rik	UTSW	14	8518635	missense	probably benign	0.00
R9502:4930452B06Rik	UTSW	14	8659452	missense	probably damaging	0.98
Z1177:4930452B06Rik	UTSW	14	8517953	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGCTGCTCTCACTGCCATAGAAG -3'
(R):5'- AGGAGGTGTAAATGAGTTGCCTGC -3'

Sequencing Primer
(F):5'- TAGAAGCCGCCTTCCAACTTG -3'
(R):5'- TGGTGGAAAAATTGCCTCCC -3'

Posted On

2014-04-24