Mutagenetix > Incidental Mutation

Incidental Mutation 'R5680:3425401B19Rik'

442995

Institutional Source

Beutler Lab

Gene Symbol

3425401B19Rik

Ensembl Gene

ENSMUSG00000071540

Gene Name

RIKEN cDNA 3425401B19 gene

Synonyms

MMRRC Submission

043177-MU

Accession Numbers

Essential gene?

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

Stock #

R5680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32381076-32407250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32384010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 652 (R652W)

Ref Sequence

ENSEMBL: ENSMUSP00000093741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096038]

AlphaFold

D3Z1D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096038
AA Change: R652W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: R652W

Domain	Start	End	E-Value	Type
low complexity region	135	145	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	386	399	N/A	INTRINSIC
low complexity region	587	602	N/A	INTRINSIC
low complexity region	605	624	N/A	INTRINSIC
low complexity region	728	744	N/A	INTRINSIC
low complexity region	1002	1015	N/A	INTRINSIC
low complexity region	1086	1097	N/A	INTRINSIC
low complexity region	1147	1158	N/A	INTRINSIC
low complexity region	1161	1176	N/A	INTRINSIC
Pfam:DUF4585	1251	1322	6.5e-30	PFAM

Meta Mutation Damage Score

0.2548

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,127,471 (GRCm39)	F362S	possibly damaging	Het
Adcy1	G	A	11: 7,059,020 (GRCm39)	V309M	probably damaging	Het
Agap2	A	G	10: 126,923,880 (GRCm39)	K752E	unknown	Het
Ahdc1	T	A	4: 132,792,907 (GRCm39)	F1383I	probably benign	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Atn1	A	T	6: 124,724,778 (GRCm39)	S152T	possibly damaging	Het
Bcl11a	G	A	11: 24,114,264 (GRCm39)	V536M	possibly damaging	Het
Cdc20	T	C	4: 118,290,264 (GRCm39)	T466A	probably damaging	Het
Cecr2	C	G	6: 120,738,387 (GRCm39)	T1010R	probably benign	Het
Cfap54	A	T	10: 92,814,879 (GRCm39)	L1318*	probably null	Het
Colec11	A	G	12: 28,644,730 (GRCm39)	S249P	probably damaging	Het
Dnah6	A	G	6: 73,126,508 (GRCm39)	V1273A	probably damaging	Het
G3bp2	T	C	5: 92,216,219 (GRCm39)	R106G	probably damaging	Het
Ggt7	A	T	2: 155,348,353 (GRCm39)	C100S	probably damaging	Het
Grik4	A	T	9: 42,540,415 (GRCm39)	M255K	probably benign	Het
Kcnj11	A	T	7: 45,748,232 (GRCm39)	S364T	probably benign	Het
Lnpep	A	T	17: 17,799,444 (GRCm39)	Y70*	probably null	Het
Mark1	T	C	1: 184,677,013 (GRCm39)	H79R	probably damaging	Het
Mdfic2	T	A	6: 98,225,187 (GRCm39)	Q32L	probably damaging	Het
Myo9b	T	G	8: 71,743,016 (GRCm39)	S26A	probably benign	Het
Pa2g4	G	T	10: 128,395,326 (GRCm39)	N306K	probably benign	Het
Pik3c3	T	A	18: 30,410,166 (GRCm39)	Y133*	probably null	Het
Prpf6	G	T	2: 181,290,933 (GRCm39)	A675S	probably damaging	Het
Psca	A	G	15: 74,587,948 (GRCm39)	D44G	probably benign	Het
Sag	T	A	1: 87,749,059 (GRCm39)	F153I	possibly damaging	Het
Scn10a	A	G	9: 119,453,202 (GRCm39)	L1231P	probably damaging	Het
Sirpa	T	C	2: 129,458,172 (GRCm39)	S157P	probably benign	Het
Slc27a2	A	T	2: 126,403,530 (GRCm39)	R184S	probably benign	Het
Tagln2	T	C	1: 172,333,479 (GRCm39)	F111S	probably damaging	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tbc1d1	A	G	5: 64,481,887 (GRCm39)	D696G	possibly damaging	Het
Tert	T	A	13: 73,790,470 (GRCm39)		probably null	Het
Togaram2	G	A	17: 71,996,204 (GRCm39)	R68K	probably benign	Het
Trim40	A	T	17: 37,199,874 (GRCm39)	I68N	probably damaging	Het
Trpa1	T	C	1: 14,946,078 (GRCm39)	M1018V	probably benign	Het
Unc13c	A	T	9: 73,839,884 (GRCm39)	N322K	probably damaging	Het
Vmn2r75	T	A	7: 85,820,779 (GRCm39)	T52S	probably benign	Het
Vmn2r90	T	G	17: 17,947,034 (GRCm39)	V437G	possibly damaging	Het
Vps16	C	A	2: 130,282,244 (GRCm39)	H389N	possibly damaging	Het

Other mutations in 3425401B19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:3425401B19Rik	APN	14	32,382,873 (GRCm39)	missense	probably benign	0.18
IGL00844:3425401B19Rik	APN	14	32,384,956 (GRCm39)	nonsense	probably null
IGL01292:3425401B19Rik	APN	14	32,382,831 (GRCm39)	missense	probably benign	0.18
IGL01295:3425401B19Rik	APN	14	32,383,893 (GRCm39)	missense	possibly damaging	0.53
IGL01457:3425401B19Rik	APN	14	32,382,908 (GRCm39)	missense	probably benign
IGL01470:3425401B19Rik	APN	14	32,382,414 (GRCm39)	missense	possibly damaging	0.53
IGL01612:3425401B19Rik	APN	14	32,381,988 (GRCm39)	missense	possibly damaging	0.53
IGL01974:3425401B19Rik	APN	14	32,381,762 (GRCm39)	missense	possibly damaging	0.85
IGL02095:3425401B19Rik	APN	14	32,383,583 (GRCm39)	missense	probably benign	0.33
IGL02138:3425401B19Rik	APN	14	32,384,672 (GRCm39)	missense	possibly damaging	0.83
IGL02178:3425401B19Rik	APN	14	32,384,418 (GRCm39)	missense	possibly damaging	0.83
IGL02245:3425401B19Rik	APN	14	32,381,772 (GRCm39)	missense	probably benign	0.03
IGL02529:3425401B19Rik	APN	14	32,383,190 (GRCm39)	missense	probably benign
IGL03401:3425401B19Rik	APN	14	32,384,223 (GRCm39)	nonsense	probably null
PIT4515001:3425401B19Rik	UTSW	14	32,383,068 (GRCm39)	nonsense	probably null
R0233:3425401B19Rik	UTSW	14	32,385,330 (GRCm39)	missense	probably benign
R0233:3425401B19Rik	UTSW	14	32,385,330 (GRCm39)	missense	probably benign
R0320:3425401B19Rik	UTSW	14	32,384,571 (GRCm39)	missense	probably benign	0.19
R0519:3425401B19Rik	UTSW	14	32,384,919 (GRCm39)	missense	possibly damaging	0.92
R0551:3425401B19Rik	UTSW	14	32,384,598 (GRCm39)	missense	probably benign	0.03
R0759:3425401B19Rik	UTSW	14	32,384,454 (GRCm39)	missense	possibly damaging	0.93
R0831:3425401B19Rik	UTSW	14	32,384,228 (GRCm39)	missense	probably benign	0.01
R1124:3425401B19Rik	UTSW	14	32,384,039 (GRCm39)	missense	possibly damaging	0.53
R1346:3425401B19Rik	UTSW	14	32,382,771 (GRCm39)	missense	probably benign	0.07
R1997:3425401B19Rik	UTSW	14	32,382,005 (GRCm39)	missense	possibly damaging	0.71
R2055:3425401B19Rik	UTSW	14	32,384,508 (GRCm39)	missense	probably benign
R2212:3425401B19Rik	UTSW	14	32,383,559 (GRCm39)	missense	probably benign	0.33
R2416:3425401B19Rik	UTSW	14	32,385,791 (GRCm39)	missense	probably benign	0.04
R2441:3425401B19Rik	UTSW	14	32,385,449 (GRCm39)	missense	possibly damaging	0.53
R2513:3425401B19Rik	UTSW	14	32,383,809 (GRCm39)	missense	possibly damaging	0.53
R3414:3425401B19Rik	UTSW	14	32,383,559 (GRCm39)	missense	probably benign	0.33
R3800:3425401B19Rik	UTSW	14	32,385,025 (GRCm39)	missense	possibly damaging	0.83
R3809:3425401B19Rik	UTSW	14	32,385,650 (GRCm39)	missense	possibly damaging	0.96
R4166:3425401B19Rik	UTSW	14	32,382,912 (GRCm39)	missense	possibly damaging	0.53
R4581:3425401B19Rik	UTSW	14	32,383,828 (GRCm39)	missense	possibly damaging	0.73
R4721:3425401B19Rik	UTSW	14	32,385,107 (GRCm39)	missense	probably benign	0.01
R4769:3425401B19Rik	UTSW	14	32,382,174 (GRCm39)	missense	probably benign	0.32
R4809:3425401B19Rik	UTSW	14	32,384,588 (GRCm39)	missense	probably benign	0.19
R4919:3425401B19Rik	UTSW	14	32,385,245 (GRCm39)	missense	possibly damaging	0.85
R4925:3425401B19Rik	UTSW	14	32,385,137 (GRCm39)	missense	possibly damaging	0.86
R4972:3425401B19Rik	UTSW	14	32,383,361 (GRCm39)	missense	possibly damaging	0.73
R5068:3425401B19Rik	UTSW	14	32,383,749 (GRCm39)	missense	possibly damaging	0.73
R5069:3425401B19Rik	UTSW	14	32,383,749 (GRCm39)	missense	possibly damaging	0.73
R5070:3425401B19Rik	UTSW	14	32,383,749 (GRCm39)	missense	possibly damaging	0.73
R5258:3425401B19Rik	UTSW	14	32,385,266 (GRCm39)	missense	probably damaging	0.98
R5435:3425401B19Rik	UTSW	14	32,383,413 (GRCm39)	missense	probably benign	0.18
R5549:3425401B19Rik	UTSW	14	32,384,993 (GRCm39)	missense	possibly damaging	0.68
R5678:3425401B19Rik	UTSW	14	32,384,010 (GRCm39)	missense	probably damaging	0.97
R5872:3425401B19Rik	UTSW	14	32,382,309 (GRCm39)	missense	possibly damaging	0.73
R5896:3425401B19Rik	UTSW	14	32,383,632 (GRCm39)	nonsense	probably null
R5940:3425401B19Rik	UTSW	14	32,384,645 (GRCm39)	missense	possibly damaging	0.91
R6044:3425401B19Rik	UTSW	14	32,382,614 (GRCm39)	missense	possibly damaging	0.53
R6136:3425401B19Rik	UTSW	14	32,384,239 (GRCm39)	missense	possibly damaging	0.70
R6277:3425401B19Rik	UTSW	14	32,385,651 (GRCm39)	missense	possibly damaging	0.86
R6385:3425401B19Rik	UTSW	14	32,383,236 (GRCm39)	missense	probably benign	0.01
R6728:3425401B19Rik	UTSW	14	32,384,645 (GRCm39)	missense	possibly damaging	0.91
R6984:3425401B19Rik	UTSW	14	32,383,937 (GRCm39)	missense	probably benign	0.00
R7047:3425401B19Rik	UTSW	14	32,382,131 (GRCm39)	missense	possibly damaging	0.89
R7249:3425401B19Rik	UTSW	14	32,385,271 (GRCm39)	missense	possibly damaging	0.73
R7493:3425401B19Rik	UTSW	14	32,385,257 (GRCm39)	missense	possibly damaging	0.96
R7575:3425401B19Rik	UTSW	14	32,384,589 (GRCm39)	missense	probably benign	0.03
R7742:3425401B19Rik	UTSW	14	32,384,714 (GRCm39)	missense	possibly damaging	0.68
R7747:3425401B19Rik	UTSW	14	32,385,026 (GRCm39)	missense	possibly damaging	0.83
R7784:3425401B19Rik	UTSW	14	32,381,797 (GRCm39)	missense	probably benign	0.00
R8098:3425401B19Rik	UTSW	14	32,384,618 (GRCm39)	missense	probably damaging	0.99
R8111:3425401B19Rik	UTSW	14	32,382,266 (GRCm39)	nonsense	probably null
R8171:3425401B19Rik	UTSW	14	32,383,982 (GRCm39)	missense	probably benign
R8276:3425401B19Rik	UTSW	14	32,385,885 (GRCm39)	missense	probably damaging	0.97
R8330:3425401B19Rik	UTSW	14	32,381,750 (GRCm39)	missense	probably damaging	0.98
R8422:3425401B19Rik	UTSW	14	32,384,254 (GRCm39)	missense	possibly damaging	0.84
R8464:3425401B19Rik	UTSW	14	32,381,934 (GRCm39)	missense	possibly damaging	0.53
R8880:3425401B19Rik	UTSW	14	32,382,837 (GRCm39)	missense	probably benign	0.33
R8898:3425401B19Rik	UTSW	14	32,383,001 (GRCm39)	nonsense	probably null
R8911:3425401B19Rik	UTSW	14	32,383,626 (GRCm39)	missense	possibly damaging	0.53
R8934:3425401B19Rik	UTSW	14	32,382,614 (GRCm39)	missense	possibly damaging	0.53
R9094:3425401B19Rik	UTSW	14	32,382,614 (GRCm39)	missense	possibly damaging	0.53
R9399:3425401B19Rik	UTSW	14	32,384,615 (GRCm39)	missense	probably damaging	0.98
R9435:3425401B19Rik	UTSW	14	32,382,562 (GRCm39)	missense	probably benign	0.08
R9485:3425401B19Rik	UTSW	14	32,383,400 (GRCm39)	missense	possibly damaging	0.85
R9766:3425401B19Rik	UTSW	14	32,385,788 (GRCm39)	missense	probably benign	0.00
X0025:3425401B19Rik	UTSW	14	32,384,426 (GRCm39)	missense	probably damaging	0.98
Z1177:3425401B19Rik	UTSW	14	32,383,355 (GRCm39)	missense	probably damaging	0.99
Z1177:3425401B19Rik	UTSW	14	32,381,765 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTGGCTGTCGCTGTAAAACAC -3'
(R):5'- AATCCTTTGCAGTCAGCCAC -3'

Sequencing Primer
(F):5'- GCTGTCGCTGTAAAACACATCCTC -3'
(R):5'- GACCTTCAGTTCACCTTCAGCTAG -3'

Posted On

2016-11-09