Mutagenetix > Incidental Mutation

Incidental Mutation 'R4096:4930407I10Rik'

317142

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

041629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4096 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81943352-81950739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81946406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 101 (G101D)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

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

AlphaFold

D3Z5T8

Predicted Effect

probably benign
Transcript: ENSMUST00000100396
AA Change: G101D

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: G101D

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

0.0721

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,008 (GRCm39)	D255G	possibly damaging	Het
Angpt2	G	A	8: 18,748,111 (GRCm39)	A383V	probably damaging	Het
Cemip2	G	T	19: 21,770,016 (GRCm39)	M1I	probably null	Het
Ctns	A	G	11: 73,077,212 (GRCm39)	M252T	probably benign	Het
Dmxl1	T	A	18: 50,094,264 (GRCm39)	H2913Q	probably damaging	Het
Enox1	C	T	14: 77,815,160 (GRCm39)	T106M	probably damaging	Het
Ext1	A	T	15: 52,936,753 (GRCm39)	V664E	probably damaging	Het
Fat4	A	T	3: 38,942,024 (GRCm39)	T306S	possibly damaging	Het
Fbxl5	T	C	5: 43,915,583 (GRCm39)	I610V	probably benign	Het
Glb1l	T	A	1: 75,186,084 (GRCm39)	M1L	probably benign	Het
Hmcn1	T	C	1: 150,534,259 (GRCm39)	K3005R	probably benign	Het
Homer2	A	G	7: 81,261,052 (GRCm39)		probably null	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Kcnq3	C	A	15: 66,157,664 (GRCm39)		probably null	Het
Mad1l1	C	T	5: 140,293,428 (GRCm39)	R130H	probably benign	Het
Man2b1	A	G	8: 85,811,366 (GRCm39)	E120G	probably damaging	Het
Mtus1	T	C	8: 41,537,284 (GRCm39)	D144G	probably damaging	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or5m10	T	C	2: 85,717,767 (GRCm39)	S208P	probably damaging	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Rrp12	A	G	19: 41,875,587 (GRCm39)	I252T	probably benign	Het
Sbno1	A	T	5: 124,529,983 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc10a4-ps	A	G	5: 72,743,709 (GRCm39)	L3P	probably damaging	Het
Slc28a2b	A	G	2: 122,353,209 (GRCm39)	Y463C	probably damaging	Het
Srpk2	A	T	5: 23,745,500 (GRCm39)		probably benign	Het
Ube3b	A	G	5: 114,531,147 (GRCm39)	T214A	possibly damaging	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zpld1	C	G	16: 55,053,881 (GRCm39)	D304H	probably damaging	Het

Other mutations in 4930407I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:4930407I10Rik	APN	15	81,950,581 (GRCm39)	missense	probably benign	0.00
IGL02135:4930407I10Rik	APN	15	81,949,205 (GRCm39)	missense	possibly damaging	0.63
IGL02367:4930407I10Rik	APN	15	81,949,748 (GRCm39)	missense	probably benign	0.00
IGL02626:4930407I10Rik	APN	15	81,949,810 (GRCm39)	missense	probably damaging	0.99
IGL02885:4930407I10Rik	APN	15	81,948,152 (GRCm39)	missense	probably benign	0.36
IGL03199:4930407I10Rik	APN	15	81,946,556 (GRCm39)	missense	possibly damaging	0.65
R0062:4930407I10Rik	UTSW	15	81,950,504 (GRCm39)	missense	probably damaging	0.98
R0062:4930407I10Rik	UTSW	15	81,947,267 (GRCm39)	missense	probably benign	0.00
R0086:4930407I10Rik	UTSW	15	81,946,802 (GRCm39)	missense	probably benign	0.11
R0578:4930407I10Rik	UTSW	15	81,943,556 (GRCm39)	missense	possibly damaging	0.49
R1130:4930407I10Rik	UTSW	15	81,943,561 (GRCm39)	missense	probably benign
R1218:4930407I10Rik	UTSW	15	81,948,353 (GRCm39)	missense	probably benign	0.04
R1942:4930407I10Rik	UTSW	15	81,949,625 (GRCm39)	missense	probably damaging	0.98
R2380:4930407I10Rik	UTSW	15	81,949,036 (GRCm39)	missense	possibly damaging	0.92
R3945:4930407I10Rik	UTSW	15	81,949,601 (GRCm39)	missense	probably damaging	1.00
R4259:4930407I10Rik	UTSW	15	81,947,927 (GRCm39)	missense	possibly damaging	0.89
R4261:4930407I10Rik	UTSW	15	81,947,927 (GRCm39)	missense	possibly damaging	0.89
R4805:4930407I10Rik	UTSW	15	81,950,628 (GRCm39)	nonsense	probably null
R4992:4930407I10Rik	UTSW	15	81,948,203 (GRCm39)	missense	possibly damaging	0.60
R5094:4930407I10Rik	UTSW	15	81,946,883 (GRCm39)	missense	possibly damaging	0.72
R5161:4930407I10Rik	UTSW	15	81,947,542 (GRCm39)	nonsense	probably null
R5201:4930407I10Rik	UTSW	15	81,946,745 (GRCm39)	missense	probably benign	0.26
R5305:4930407I10Rik	UTSW	15	81,943,420 (GRCm39)	missense	possibly damaging	0.52
R5588:4930407I10Rik	UTSW	15	81,949,417 (GRCm39)	missense	possibly damaging	0.83
R5844:4930407I10Rik	UTSW	15	81,950,065 (GRCm39)	missense	probably benign	0.33
R6007:4930407I10Rik	UTSW	15	81,946,940 (GRCm39)	missense	probably benign	0.13
R6157:4930407I10Rik	UTSW	15	81,947,617 (GRCm39)	missense	possibly damaging	0.67
R6188:4930407I10Rik	UTSW	15	81,943,471 (GRCm39)	missense	probably benign	0.01
R6350:4930407I10Rik	UTSW	15	81,947,764 (GRCm39)	missense	possibly damaging	0.55
R6408:4930407I10Rik	UTSW	15	81,949,307 (GRCm39)	missense	possibly damaging	0.77
R6805:4930407I10Rik	UTSW	15	81,946,744 (GRCm39)	missense	possibly damaging	0.95
R6911:4930407I10Rik	UTSW	15	81,948,068 (GRCm39)	missense	probably benign	0.01
R6962:4930407I10Rik	UTSW	15	81,949,150 (GRCm39)	missense	probably benign	0.14
R7446:4930407I10Rik	UTSW	15	81,950,441 (GRCm39)	missense	probably benign
R7492:4930407I10Rik	UTSW	15	81,948,560 (GRCm39)	missense	possibly damaging	0.63
R7699:4930407I10Rik	UTSW	15	81,948,306 (GRCm39)	missense	probably benign	0.04
R7700:4930407I10Rik	UTSW	15	81,948,306 (GRCm39)	missense	probably benign	0.04
R7963:4930407I10Rik	UTSW	15	81,948,137 (GRCm39)	missense	possibly damaging	0.79
R8215:4930407I10Rik	UTSW	15	81,949,301 (GRCm39)	missense	probably benign	0.01
R8257:4930407I10Rik	UTSW	15	81,950,153 (GRCm39)	missense	probably benign	0.22
R8311:4930407I10Rik	UTSW	15	81,947,440 (GRCm39)	missense	possibly damaging	0.77
R8436:4930407I10Rik	UTSW	15	81,949,936 (GRCm39)	missense	possibly damaging	0.48
R8530:4930407I10Rik	UTSW	15	81,949,587 (GRCm39)	missense	probably damaging	0.99
R8531:4930407I10Rik	UTSW	15	81,950,622 (GRCm39)	missense	probably benign	0.02
R8886:4930407I10Rik	UTSW	15	81,950,051 (GRCm39)	missense	probably damaging	0.99
R9109:4930407I10Rik	UTSW	15	81,947,615 (GRCm39)	missense	probably benign	0.00
R9298:4930407I10Rik	UTSW	15	81,947,615 (GRCm39)	missense	probably benign	0.00
R9424:4930407I10Rik	UTSW	15	81,947,843 (GRCm39)	missense	probably benign	0.00
R9576:4930407I10Rik	UTSW	15	81,947,843 (GRCm39)	missense	probably benign	0.00
R9654:4930407I10Rik	UTSW	15	81,948,916 (GRCm39)	missense	possibly damaging	0.95
R9696:4930407I10Rik	UTSW	15	81,949,697 (GRCm39)	missense	probably benign
R9710:4930407I10Rik	UTSW	15	81,946,852 (GRCm39)	missense	probably benign
RF004:4930407I10Rik	UTSW	15	81,943,550 (GRCm39)	missense	possibly damaging	0.82
X0011:4930407I10Rik	UTSW	15	81,943,486 (GRCm39)	missense	probably damaging	1.00
X0026:4930407I10Rik	UTSW	15	81,947,512 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCCCTTTTCTTAGCACAGG -3'
(R):5'- CAAGAACTGTCCTGAGGGAG -3'

Sequencing Primer
(F):5'- AGAGTGGGGGACATTTGGTC -3'
(R):5'- TCCTGAGGGAGAAGACAAGTGTTTG -3'

Posted On

2015-05-15