Mutagenetix > Incidental Mutation

Incidental Mutation 'R5094:4930407I10Rik'

388005

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

042683-MU

Accession Numbers

Essential gene?

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

Stock #

R5094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81943352-81950739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81946883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 260 (G260V)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

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

AlphaFold

D3Z5T8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100396
AA Change: G260V

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: G260V

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	C	5: 24,656,319 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,709,296 (GRCm39)	S1173P	probably damaging	Het
C3	A	T	17: 57,532,033 (GRCm39)		probably null	Het
Cdh18	G	A	15: 22,714,625 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,402,892 (GRCm39)	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,734,861 (GRCm39)		probably benign	Het
Chat	T	A	14: 32,130,896 (GRCm39)	I582F	probably damaging	Het
Chrnb4	T	C	9: 54,942,597 (GRCm39)	I226V	probably benign	Het
Dnajc2	T	C	5: 21,981,730 (GRCm39)	T139A	probably damaging	Het
Eml1	T	C	12: 108,502,570 (GRCm39)	F712S	probably benign	Het
Fgfr1	C	T	8: 26,060,181 (GRCm39)	S524L	probably damaging	Het
Gimap3	T	C	6: 48,742,306 (GRCm39)	E208G	probably damaging	Het
Gm12185	T	A	11: 48,798,375 (GRCm39)	D706V	probably benign	Het
Gucy1a2	T	A	9: 3,865,443 (GRCm39)	V639D	probably damaging	Het
Hivep2	T	C	10: 14,007,893 (GRCm39)	F1497S	probably benign	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Ifit3b	T	A	19: 34,589,948 (GRCm39)	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,785,669 (GRCm39)	S13P	possibly damaging	Het
Or5w12	C	T	2: 87,502,174 (GRCm39)	C179Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,384 (GRCm39)	Y149F	probably damaging	Het
Pah	T	A	10: 87,374,081 (GRCm39)	Y78*	probably null	Het
Pex13	A	G	11: 23,605,441 (GRCm39)	V263A	probably benign	Het
Pfdn2	T	A	1: 171,184,067 (GRCm39)		probably benign	Het
Phip	C	T	9: 82,753,897 (GRCm39)	V1616I	probably benign	Het
Pigg	A	G	5: 108,484,123 (GRCm39)	S457G	possibly damaging	Het
Ppp1r13b	A	G	12: 111,810,044 (GRCm39)	S97P	probably benign	Het
Slc22a6	T	C	19: 8,603,541 (GRCm39)	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,315,624 (GRCm39)	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,291,211 (GRCm39)	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,852,858 (GRCm39)		probably null	Het
Tlcd2	T	C	11: 75,360,640 (GRCm39)	S228P	probably benign	Het
Tmem135	A	G	7: 88,793,001 (GRCm39)	L411P	probably damaging	Het
Tnrc6c	T	C	11: 117,611,872 (GRCm39)	V170A	probably benign	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
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'- GCTATATGCCAAAGAACGGAGC -3'
(R):5'- TCTGTACCCCAGGGCTTTAG -3'

Sequencing Primer
(F):5'- TCTCATACGTTGGTGCCAGCAG -3'
(R):5'- GCTTTAGCCTGTTCCTCCTC -3'

Posted On

2016-06-06