Mutagenetix > Incidental Mutation

Incidental Mutation 'R9399:3425401B19Rik'

711017

Institutional Source

Beutler Lab

Gene Symbol

3425401B19Rik

Ensembl Gene

ENSMUSG00000071540

Gene Name

RIKEN cDNA 3425401B19 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32381076-32407250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32384615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 450 (L450R)

Ref Sequence

ENSEMBL: ENSMUSP00000093741 (fasta)

Gene Model

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

AlphaFold

D3Z1D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096038
AA Change: L450R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: L450R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	T	A	4: 123,754,413 (GRCm39)	L109*	probably null	Het
Amotl2	T	C	9: 102,606,531 (GRCm39)	L576P	probably damaging	Het
Ankrd11	T	C	8: 123,618,179 (GRCm39)	N1891S	probably benign	Het
Arap2	T	A	5: 62,763,455 (GRCm39)	H1563L	possibly damaging	Het
Astn2	T	C	4: 65,664,588 (GRCm39)	T732A	possibly damaging	Het
Atp2b2	A	G	6: 113,780,713 (GRCm39)	I312T	probably benign	Het
Bcl9	C	T	3: 97,113,289 (GRCm39)	M1055I	probably benign	Het
Carm1	A	G	9: 21,486,791 (GRCm39)	N180D	possibly damaging	Het
Cd180	A	T	13: 102,842,021 (GRCm39)	T356S	probably benign	Het
Cdh18	A	C	15: 23,173,899 (GRCm39)	T38P	probably damaging	Het
Cdk7	G	T	13: 100,840,988 (GRCm39)	P308Q	probably damaging	Het
Chd5	C	T	4: 152,468,592 (GRCm39)	A1715V	probably benign	Het
Clptm1	A	T	7: 19,367,842 (GRCm39)	V590D	probably damaging	Het
Col18a1	C	T	10: 76,916,584 (GRCm39)	G364R	unknown	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Fgfr4	C	T	13: 55,304,293 (GRCm39)	T111M	probably damaging	Het
Fndc8	A	T	11: 82,788,739 (GRCm39)	T190S	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Glra3	T	A	8: 56,542,079 (GRCm39)	I274N	probably damaging	Het
Gpsm2	G	A	3: 108,590,090 (GRCm39)	R499*	probably null	Het
Gzme	T	A	14: 56,355,796 (GRCm39)	D172V	probably damaging	Het
Ift88	T	A	14: 57,717,385 (GRCm39)	D536E	probably benign	Het
Itih3	T	C	14: 30,643,335 (GRCm39)	T151A	probably benign	Het
Kctd7	T	C	5: 130,177,033 (GRCm39)	Y95H	probably damaging	Het
Lipe	A	T	7: 25,097,227 (GRCm39)	C239S	probably benign	Het
Lpcat3	T	C	6: 124,640,283 (GRCm39)	S38P	probably benign	Het
Mical2	C	T	7: 111,946,082 (GRCm39)	R1015C	probably damaging	Het
Midn	C	T	10: 79,992,210 (GRCm39)	R421*	probably null	Het
Mmp17	A	T	5: 129,671,686 (GRCm39)	K79*	probably null	Het
Or8b39	A	G	9: 37,997,020 (GRCm39)	H296R	probably benign	Het
Or8k16	G	C	2: 85,520,395 (GRCm39)	L207F	probably damaging	Het
Pla2r1	A	G	2: 60,282,744 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,755,010 (GRCm39)	V79A	probably damaging	Het
Prkd3	G	T	17: 79,264,719 (GRCm39)	P633H	probably damaging	Het
Prss40	T	A	1: 34,591,794 (GRCm39)	S294C	probably damaging	Het
Raph1	T	A	1: 60,565,154 (GRCm39)	Q111L	probably benign	Het
Rufy3	A	T	5: 88,797,725 (GRCm39)	N634I	possibly damaging	Het
Sel1l3	A	C	5: 53,265,486 (GRCm39)	V1102G	probably benign	Het
Sh2b1	AGCTCAGCC	AGCTCAGCCCCGGGGACCCGCTCAGCC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	GG	GGCACCAGCTCAGCCCCGCG	7: 126,066,762 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc25a23	C	A	17: 57,360,930 (GRCm39)	G165C	probably damaging	Het
Spata31e1	T	A	13: 49,940,175 (GRCm39)	T512S	possibly damaging	Het
Sytl2	T	A	7: 90,041,658 (GRCm39)	D585E	probably benign	Het
Ttc14	A	G	3: 33,858,856 (GRCm39)	T372A	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r82	T	A	10: 79,214,768 (GRCm39)	Y250*	probably null	Het
Vmn2r92	T	A	17: 18,389,137 (GRCm39)	S484T	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
R5678:3425401B19Rik	UTSW	14	32,384,010 (GRCm39)	missense	probably damaging	0.97
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
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'- TCAAAGCCTTTTAAGAGAGGCAAG -3'
(R):5'- GACAGATGGTCCACCTGATG -3'

Sequencing Primer
(F):5'- GACACGTTTCCGAACATCTTTTAGG -3'
(R):5'- GTCCACCTGATGCTTTGGAAGAC -3'

Posted On

2022-04-18