Mutagenetix > Incidental Mutation

Incidental Mutation 'R6350:4930407I10Rik'

514171

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

Accession Numbers

Essential gene?

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

Stock #

R6350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81943352-81950739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81947764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 554 (K554E)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

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

AlphaFold

D3Z5T8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100396
AA Change: K554E

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: K554E

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,449,156 (GRCm39)	M609V	probably benign	Het
Acsm3	A	G	7: 119,367,256 (GRCm39)	T30A	probably benign	Het
Adam32	T	C	8: 25,353,445 (GRCm39)	K715E	possibly damaging	Het
Cdk5r1	T	C	11: 80,369,068 (GRCm39)	L245P	probably damaging	Het
Cntn3	A	G	6: 102,147,579 (GRCm39)	V926A	probably damaging	Het
Csf2rb	G	A	15: 78,229,752 (GRCm39)	D440N	probably damaging	Het
D3Ertd751e	T	A	3: 41,708,278 (GRCm39)	H138Q	probably damaging	Het
D630003M21Rik	A	G	2: 158,062,415 (GRCm39)	L35P	probably damaging	Het
Faap100	A	T	11: 120,265,406 (GRCm39)	V490E	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Kcnmb1	A	G	11: 33,914,711 (GRCm39)	K4R	probably damaging	Het
Larp1	T	A	11: 57,940,657 (GRCm39)	D594E	probably benign	Het
Lnpep	G	T	17: 17,783,071 (GRCm39)	H577N	probably benign	Het
Mief1	T	C	15: 80,133,804 (GRCm39)	I287T	probably damaging	Het
Mras	T	C	9: 99,293,560 (GRCm39)	S27G	probably damaging	Het
Myh7b	T	A	2: 155,470,680 (GRCm39)	C1043S	probably benign	Het
N4bp1	T	C	8: 87,588,596 (GRCm39)	D114G	probably damaging	Het
Nsmce4a	A	T	7: 130,140,829 (GRCm39)	I219K	probably damaging	Het
Nynrin	A	T	14: 56,105,533 (GRCm39)	I848F	probably benign	Het
Or2p2	T	C	13: 21,256,775 (GRCm39)	E232G	probably benign	Het
Or4f62	T	A	2: 111,986,542 (GRCm39)	I82N	probably damaging	Het
Patj	T	A	4: 98,293,855 (GRCm39)	S36T	probably benign	Het
Pcdhb15	G	A	18: 37,608,414 (GRCm39)	V549M	probably damaging	Het
Prl2c5	T	C	13: 13,357,631 (GRCm39)		probably null	Het
Ptbp3	A	T	4: 59,482,624 (GRCm39)	D386E	probably damaging	Het
Ptpra	T	C	2: 130,382,512 (GRCm39)	L451P	probably damaging	Het
Repin1	A	G	6: 48,574,562 (GRCm39)	D497G	probably damaging	Het
Ryr2	A	G	13: 11,776,282 (GRCm39)	F1085S	probably damaging	Het
Slc6a18	G	A	13: 73,826,044 (GRCm39)	A2V	possibly damaging	Het
Wee2	C	T	6: 40,432,039 (GRCm39)	R203C	probably damaging	Het
Zmynd15	T	C	11: 70,355,257 (GRCm39)	V388A	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
R4096:4930407I10Rik	UTSW	15	81,946,406 (GRCm39)	missense	probably benign	0.07
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
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'- ATGAAAAGACCCAGGCCCTG -3'
(R):5'- CAAGTCTCCATGTCAGGTTCAC -3'

Sequencing Primer
(F):5'- CCTGGGGTGGGAGAAACAG -3'
(R):5'- AGGTTCACTGGATCGAGCCTG -3'

Posted On

2018-04-27