Mutagenetix > Incidental Mutation

Incidental Mutation 'R9654:4930407I10Rik'

727286

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9654 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82059151-82066540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82064715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 938 (S938P)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

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

AlphaFold

D3Z5T8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100396
AA Change: S938P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: S938P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	T	17: 24,317,125	H523N	probably benign	Het
Alx1	T	A	10: 103,022,232	H202L	probably benign	Het
Amotl1	T	A	9: 14,551,685	H744L	probably benign	Het
Ankrd50	A	T	3: 38,456,869	S450T	probably benign	Het
Arhgef25	C	T	10: 127,186,086	S200N	probably damaging	Het
Arl4c	G	T	1: 88,701,639	S9*	probably null	Het
Bod1l	A	G	5: 41,818,364	M1869T	probably benign	Het
Btnl6	G	A	17: 34,514,166	P241L	probably damaging	Het
Cacng8	C	T	7: 3,394,486	R88W	probably damaging	Het
Ccdc154	C	T	17: 25,167,710	T262I	possibly damaging	Het
Clmn	C	A	12: 104,781,934	E451D	probably damaging	Het
Dnah14	A	T	1: 181,766,339	I3416L	probably benign	Het
Dnah17	A	G	11: 118,036,330		probably null	Het
Dnah3	T	A	7: 120,042,173	K1175*	probably null	Het
Dock8	C	T	19: 25,147,346	R1009W	probably damaging	Het
Doxl2	T	C	6: 48,975,903	L254P	probably damaging	Het
Fam160a1	G	T	3: 85,672,225	T891K	probably damaging	Het
Fkbp15	A	G	4: 62,312,316	V720A	probably benign	Het
Fryl	G	T	5: 73,118,458	P121Q	probably benign	Het
H2-Q6	C	T	17: 35,425,209	R56C	probably damaging	Het
Hbs1l	T	C	10: 21,307,705	V115A	possibly damaging	Het
Heatr5a	G	A	12: 51,958,995	P66S	probably damaging	Het
Hsd17b4	A	G	18: 50,139,466	D44G	probably benign	Het
Idh3a	T	C	9: 54,589,898	V41A	probably benign	Het
Itih1	T	A	14: 30,942,913	K37M	probably damaging	Het
Lama1	A	G	17: 67,794,271	T1920A		Het
Ltn1	G	C	16: 87,410,339	D904E	probably benign	Het
Map6	T	C	7: 99,336,959	I893T	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mr1	T	C	1: 155,137,684	H49R	possibly damaging	Het
Myh2	T	C	11: 67,197,345	V1929A	probably benign	Het
Ncoa4	C	A	14: 32,174,508	P230Q	probably benign	Het
Npy4r	T	A	14: 34,147,124	Q69L	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Nus1	T	G	10: 52,418,034	L98R	possibly damaging	Het
Olfr1117-ps1	C	T	2: 87,284,727	L146F	probably benign	Het
Olfr1201	T	C	2: 88,794,919	L179S	probably damaging	Het
Olfr1362	T	C	13: 21,611,745	T75A	possibly damaging	Het
Olfr181	T	A	16: 58,926,389	I61F	probably benign	Het
Olfr296-ps1	T	A	7: 86,561,742	N3K	unknown	Het
Pcdha11	A	C	18: 37,012,280	T475P	probably damaging	Het
Pex5l	C	A	3: 32,956,678	A384S	probably benign	Het
Pgk2	T	A	17: 40,207,760	D259V	probably damaging	Het
Rhbdf1	T	C	11: 32,216,028	M52V	probably benign	Het
Rsph6a	T	A	7: 19,065,407	L321Q	probably damaging	Het
Sugp1	T	A	8: 70,070,006	M452K	probably damaging	Het
Sult2a6	T	G	7: 14,222,520	D272A	probably benign	Het
Tlr6	A	T	5: 64,955,354	L70Q	probably damaging	Het
Tmem178b	A	T	6: 40,245,600	Y83F	probably benign	Het
Tmprss4	C	T	9: 45,179,402		probably null	Het
Trpv4	A	G	5: 114,626,826	L709P	probably benign	Het
Utp15	G	A	13: 98,249,160	T519M	probably benign	Het
Vmn2r59	T	C	7: 42,043,793	N461S	probably benign	Het
Zap70	T	C	1: 36,779,246	V338A	probably benign	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
R6007:4930407I10Rik	UTSW	15	82062739	missense	probably benign	0.13
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
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'- GGATTGTAGAAAGCTGCAGC -3'
(R):5'- AGCTGCACTTCTGCCTTGTG -3'

Sequencing Primer
(F):5'- TCAGAGACTAAGGTTAGGTGAAGTTG -3'
(R):5'- CACTTTCCCAGAAGAGTCATTTGGG -3'

Posted On

2022-10-06