Mutagenetix > Incidental Mutation

Incidental Mutation 'R5678:3425401B19Rik'

442908

Institutional Source

Beutler Lab

Gene Symbol

3425401B19Rik

Ensembl Gene

ENSMUSG00000071540

Gene Name

RIKEN cDNA 3425401B19 gene

Synonyms

MMRRC Submission

043317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5678 (G1)

Quality Score

225

Status

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: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,466,529 (GRCm39)	T168A	probably damaging	Het
A530016L24Rik	T	G	12: 112,463,306 (GRCm39)	C43W	probably damaging	Het
Aatk	T	C	11: 119,900,980 (GRCm39)	T1082A	probably benign	Het
Acsl1	T	A	8: 46,945,887 (GRCm39)	F7I	probably benign	Het
Adgb	T	G	10: 10,307,070 (GRCm39)	S299R	possibly damaging	Het
Apob	T	C	12: 8,041,494 (GRCm39)	F738L	possibly damaging	Het
Art3	T	C	5: 92,540,409 (GRCm39)	Y51H	probably damaging	Het
Atr	C	T	9: 95,833,540 (GRCm39)	Q2597*	probably null	Het
Atrn	T	C	2: 130,811,936 (GRCm39)	V627A	probably damaging	Het
Baz1a	T	C	12: 54,947,317 (GRCm39)	K1111E	probably damaging	Het
Ccdc40	T	C	11: 119,122,398 (GRCm39)	S67P	possibly damaging	Het
Cd164	T	C	10: 41,395,948 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,234,154 (GRCm39)	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,284,199 (GRCm39)	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239 (GRCm39)	A998V	unknown	Het
Csrnp2	T	C	15: 100,379,685 (GRCm39)	*535W	probably null	Het
Dhrs7	C	T	12: 72,704,106 (GRCm39)	G130D	probably damaging	Het
Dnah3	T	C	7: 119,677,074 (GRCm39)	T477A	probably benign	Het
Dscam	A	G	16: 96,592,100 (GRCm39)	F725S	probably benign	Het
Dstyk	T	C	1: 132,381,029 (GRCm39)	V508A	probably benign	Het
Eif4g3	A	G	4: 137,879,053 (GRCm39)	E595G	probably damaging	Het
Epha6	A	T	16: 59,639,342 (GRCm39)	V844E	probably damaging	Het
Esrp2	G	A	8: 106,858,750 (GRCm39)	A629V	probably damaging	Het
Fndc3b	A	G	3: 27,483,172 (GRCm39)	S1009P	probably benign	Het
Gm8257	A	T	14: 44,894,706 (GRCm39)	I28N	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,207 (GRCm39)	E4G	possibly damaging	Het
Ints3	A	G	3: 90,310,855 (GRCm39)	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,458,101 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,156,855 (GRCm39)	C92R	probably damaging	Het
Nup210l	T	C	3: 90,098,266 (GRCm39)	V1406A	probably damaging	Het
Or10g7	T	C	9: 39,905,199 (GRCm39)	V31A	probably benign	Het
Or4a75	A	G	2: 89,447,625 (GRCm39)	F304L	probably benign	Het
Or4c108	A	T	2: 88,803,317 (GRCm39)	L306*	probably null	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Qdpr	T	C	5: 45,604,979 (GRCm39)	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,691,135 (GRCm39)	E2G	unknown	Het
Setd2	A	G	9: 110,431,254 (GRCm39)	T5A	probably damaging	Het
Slc66a2	T	C	18: 80,300,249 (GRCm39)	I40T	probably damaging	Het
Srpk2	TCA	T	5: 23,729,604 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,783,397 (GRCm39)		probably null	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,933 (GRCm39)	Q791L	unknown	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tnrc18	T	C	5: 142,719,319 (GRCm39)	D1989G	unknown	Het
Utp20	A	T	10: 88,644,979 (GRCm39)	H582Q	probably benign	Het
Utrn	A	G	10: 12,317,762 (GRCm39)	I554T	probably damaging	Het
Zfp1005	A	T	2: 150,110,425 (GRCm39)	R372*	probably null	Het
Zfp119a	T	C	17: 56,175,336 (GRCm39)	E53G	probably benign	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
R5680:3425401B19Rik	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'- CTGTCGCTGTAAAACACATCCTC -3'
(R):5'- AGAGAATCCTTTGCAGTCAGCC -3'

Sequencing Primer
(F):5'- TCCTCCTCAGGGGAAAGG -3'
(R):5'- TTTGCAGTCAGCCACCCG -3'

Posted On

2016-11-09