Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:4930407I10Rik'

479555

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82059151-82066540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 82062739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 279 (T279S)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100396]

AlphaFold

D3Z5T8

Predicted Effect

probably benign
Transcript: ENSMUST00000100396
AA Change: T279S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: T279S

Domain	Start	End	E-Value	Type
Pfam:DUF4727	25	234	1.1e-109	PFAM
internal_repeat_1	321	406	9.89e-8	PROSPERO
low complexity region	453	465	N/A	INTRINSIC
internal_repeat_2	593	707	6.03e-6	PROSPERO
low complexity region	735	752	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
internal_repeat_2	842	958	6.03e-6	PROSPERO
internal_repeat_1	876	962	9.89e-8	PROSPERO
low complexity region	985	996	N/A	INTRINSIC
low complexity region	1117	1133	N/A	INTRINSIC
low complexity region	1143	1156	N/A	INTRINSIC
low complexity region	1199	1208	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1282	1296	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,160,918	A9S	possibly damaging	Het
A830018L16Rik	A	G	1: 11,511,916		probably null	Het
Abcg5	T	G	17: 84,668,964	I482L	probably benign	Het
Adgrf5	T	A	17: 43,437,571	D44E	probably damaging	Het
Amh	A	G	10: 80,805,471	N75S	probably benign	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bpifb4	T	C	2: 153,942,560	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,379,421	E1449V	probably null	Het
Chml	A	G	1: 175,688,028	V109A	probably benign	Het
Crybg3	G	T	16: 59,554,474	S2139*	probably null	Het
Cyp2c68	T	C	19: 39,734,336	D256G	probably damaging	Het
Dchs2	G	T	3: 83,346,227	V2315L	probably damaging	Het
Ddx20	T	C	3: 105,683,420	I227V	possibly damaging	Het
Drg2	T	C	11: 60,462,625	V266A	possibly damaging	Het
Flcn	C	A	11: 59,792,622	E576D	probably benign	Het
Fstl5	T	A	3: 76,410,592	D188E	probably damaging	Het
Gm14496	A	G	2: 181,997,530	Q471R	probably benign	Het
Gm43772	T	C	5: 66,174,991		probably benign	Het
Gpc6	C	T	14: 117,951,261	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,335,802	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,660,987	C1050*	probably null	Het
Larp4b	T	C	13: 9,168,757	V510A	probably benign	Het
Map3k13	A	T	16: 21,905,183	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,339,247	I226F	possibly damaging	Het
Mme	G	A	3: 63,343,508	W323*	probably null	Het
Mrpl24	A	G	3: 87,922,398	Y97C	probably benign	Het
Mslnl	G	A	17: 25,746,775	S541N	probably benign	Het
Npepl1	T	C	2: 174,121,057	V412A	probably benign	Het
Nrg3	T	A	14: 39,472,452	K117*	probably null	Het
Olfr1275	T	C	2: 111,230,930	T288A	probably benign	Het
Olfr736	G	T	14: 50,393,491	C245F	probably damaging	Het
Orc2	A	T	1: 58,467,692	M447K	probably benign	Het
Phf3	A	T	1: 30,804,345	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,793,290	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,179,949	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,181,449		probably null	Het
Secisbp2	T	C	13: 51,665,359	I325T	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Slc4a10	A	G	2: 62,268,872	M625V	probably benign	Het
Synpo	T	A	18: 60,603,615	M420L	probably benign	Het
Tmem116	A	C	5: 121,517,892	*147C	probably null	Het
Top2b	G	A	14: 16,423,779		probably null	Het
Trp53bp2	T	A	1: 182,455,740	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,765,360	F896L	probably damaging	Het
Vil1	T	C	1: 74,419,867	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,375,054	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,453,666	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,965,343	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,029,290	M472V	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp677	A	G	17: 21,397,656	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,558,704	F407S	probably damaging	Het

Other mutations in 4930407I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:4930407I10Rik	APN	15	82066380	missense	probably benign	0.00
IGL02135:4930407I10Rik	APN	15	82065004	missense	possibly damaging	0.63
IGL02367:4930407I10Rik	APN	15	82065547	missense	probably benign	0.00
IGL02626:4930407I10Rik	APN	15	82065609	missense	probably damaging	0.99
IGL02885:4930407I10Rik	APN	15	82063951	missense	probably benign	0.36
IGL03199:4930407I10Rik	APN	15	82062355	missense	possibly damaging	0.65
R0062:4930407I10Rik	UTSW	15	82063066	missense	probably benign	0.00
R0062:4930407I10Rik	UTSW	15	82066303	missense	probably damaging	0.98
R0086:4930407I10Rik	UTSW	15	82062601	missense	probably benign	0.11
R0578:4930407I10Rik	UTSW	15	82059355	missense	possibly damaging	0.49
R1130:4930407I10Rik	UTSW	15	82059360	missense	probably benign
R1218:4930407I10Rik	UTSW	15	82064152	missense	probably benign	0.04
R1942:4930407I10Rik	UTSW	15	82065424	missense	probably damaging	0.98
R2380:4930407I10Rik	UTSW	15	82064835	missense	possibly damaging	0.92
R3945:4930407I10Rik	UTSW	15	82065400	missense	probably damaging	1.00
R4096:4930407I10Rik	UTSW	15	82062205	missense	probably benign	0.07
R4259:4930407I10Rik	UTSW	15	82063726	missense	possibly damaging	0.89
R4261:4930407I10Rik	UTSW	15	82063726	missense	possibly damaging	0.89
R4805:4930407I10Rik	UTSW	15	82066427	nonsense	probably null
R4992:4930407I10Rik	UTSW	15	82064002	missense	possibly damaging	0.60
R5094:4930407I10Rik	UTSW	15	82062682	missense	possibly damaging	0.72
R5161:4930407I10Rik	UTSW	15	82063341	nonsense	probably null
R5201:4930407I10Rik	UTSW	15	82062544	missense	probably benign	0.26
R5305:4930407I10Rik	UTSW	15	82059219	missense	possibly damaging	0.52
R5588:4930407I10Rik	UTSW	15	82065216	missense	possibly damaging	0.83
R5844:4930407I10Rik	UTSW	15	82065864	missense	probably benign	0.33
R6157:4930407I10Rik	UTSW	15	82063416	missense	possibly damaging	0.67
R6188:4930407I10Rik	UTSW	15	82059270	missense	probably benign	0.01
R6350:4930407I10Rik	UTSW	15	82063563	missense	possibly damaging	0.55
R6408:4930407I10Rik	UTSW	15	82065106	missense	possibly damaging	0.77
R6805:4930407I10Rik	UTSW	15	82062543	missense	possibly damaging	0.95
R6911:4930407I10Rik	UTSW	15	82063867	missense	probably benign	0.01
R6962:4930407I10Rik	UTSW	15	82064949	missense	probably benign	0.14
R7446:4930407I10Rik	UTSW	15	82066240	missense	probably benign
R7492:4930407I10Rik	UTSW	15	82064359	missense	possibly damaging	0.63
R7699:4930407I10Rik	UTSW	15	82064105	missense	probably benign	0.04
R7700:4930407I10Rik	UTSW	15	82064105	missense	probably benign	0.04
R7963:4930407I10Rik	UTSW	15	82063936	missense	possibly damaging	0.79
R8215:4930407I10Rik	UTSW	15	82065100	missense	probably benign	0.01
R8257:4930407I10Rik	UTSW	15	82065952	missense	probably benign	0.22
R8311:4930407I10Rik	UTSW	15	82063239	missense	possibly damaging	0.77
R8436:4930407I10Rik	UTSW	15	82065735	missense	possibly damaging	0.48
R8530:4930407I10Rik	UTSW	15	82065386	missense	probably damaging	0.99
R8531:4930407I10Rik	UTSW	15	82066421	missense	probably benign	0.02
R8886:4930407I10Rik	UTSW	15	82065850	missense	probably damaging	0.99
R9109:4930407I10Rik	UTSW	15	82063414	missense	probably benign	0.00
R9298:4930407I10Rik	UTSW	15	82063414	missense	probably benign	0.00
R9424:4930407I10Rik	UTSW	15	82063642	missense	probably benign	0.00
R9576:4930407I10Rik	UTSW	15	82063642	missense	probably benign	0.00
R9654:4930407I10Rik	UTSW	15	82064715	missense	possibly damaging	0.95
R9696:4930407I10Rik	UTSW	15	82065496	missense	probably benign
R9710:4930407I10Rik	UTSW	15	82062651	missense	probably benign
RF004:4930407I10Rik	UTSW	15	82059349	missense	possibly damaging	0.82
X0011:4930407I10Rik	UTSW	15	82059285	missense	probably damaging	1.00
X0026:4930407I10Rik	UTSW	15	82063311	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTGTTAGCCTGAGGTAC -3'
(R):5'- TCCCACTCTGACACTGAGATC -3'

Sequencing Primer
(F):5'- GGTACACCTCCACAACTTTAGC -3'
(R):5'- ACTGAGATCTCGCCATCAGTG -3'

Posted On

2017-06-26