Mutagenetix > Incidental Mutation

Incidental Mutation 'R9435:3425401B19Rik'

713251

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 #

R9435 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32381076-32407250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32382562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1134 (D1134E)

Ref Sequence

ENSEMBL: ENSMUSP00000093741 (fasta)

Gene Model

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

AlphaFold

D3Z1D3

Predicted Effect

probably benign
Transcript: ENSMUST00000096038
AA Change: D1134E

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: D1134E

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	C	T	11: 110,182,911 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,036,409 (GRCm39)	T169A	probably damaging	Het
Agtpbp1	A	T	13: 59,622,429 (GRCm39)	N932K	probably benign	Het
Aldh5a1	G	A	13: 25,121,293 (GRCm39)	R87C	probably damaging	Het
Bpifa1	G	T	2: 153,985,843 (GRCm39)	A53S	unknown	Het
Cacna2d2	T	C	9: 107,396,384 (GRCm39)	I667T	probably benign	Het
Catsperg1	T	A	7: 28,889,751 (GRCm39)	T784S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cd46	C	G	1: 194,767,720 (GRCm39)	D114H	probably damaging	Het
Cd82	A	T	2: 93,267,740 (GRCm39)	L19Q	probably damaging	Het
Celsr1	T	C	15: 85,806,535 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,961,885 (GRCm39)	I180T	possibly damaging	Het
Drg2	T	C	11: 60,358,966 (GRCm39)	V362A	probably benign	Het
Eef2	T	A	10: 81,014,994 (GRCm39)	M231K	probably benign	Het
Egr2	T	C	10: 67,375,628 (GRCm39)	Y75H	probably damaging	Het
Exoc6	A	C	19: 37,585,545 (GRCm39)	Q473H	probably benign	Het
Focad	T	A	4: 88,267,076 (GRCm39)	M1029K	unknown	Het
Fpr-rs4	T	A	17: 18,242,391 (GRCm39)	S133T	probably benign	Het
Gbf1	T	C	19: 46,268,432 (GRCm39)	V1322A	probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)		probably benign	Het
Golph3l	T	C	3: 95,496,369 (GRCm39)	V31A	probably benign	Het
Iars2	A	T	1: 185,034,913 (GRCm39)	V610D	probably damaging	Het
Igsf6	T	A	7: 120,666,472 (GRCm39)	I203F	probably damaging	Het
Ildr2	A	G	1: 166,136,691 (GRCm39)	Y510C	probably damaging	Het
Iqcf4	C	A	9: 106,445,652 (GRCm39)	R165L	possibly damaging	Het
Itgb1bp1	T	G	12: 21,320,943 (GRCm39)	I183L	possibly damaging	Het
Itgb4	A	C	11: 115,895,855 (GRCm39)	S1414R	probably benign	Het
Kbtbd7	G	T	14: 79,664,944 (GRCm39)	A259S	probably benign	Het
Kif14	T	A	1: 136,401,174 (GRCm39)	D508E	possibly damaging	Het
Klc2	A	T	19: 5,159,662 (GRCm39)	D484E	possibly damaging	Het
Lamc2	T	C	1: 153,013,072 (GRCm39)	S630G	probably benign	Het
Myl6b	G	A	10: 128,331,066 (GRCm39)	T125M	possibly damaging	Het
Nbea	T	A	3: 55,943,309 (GRCm39)	K655N	possibly damaging	Het
Nkx3-2	T	C	5: 41,919,493 (GRCm39)	D165G	probably benign	Het
Npy	A	T	6: 49,804,481 (GRCm39)	R67S	probably damaging	Het
Nrg3	A	T	14: 39,194,556 (GRCm39)	C68S	possibly damaging	Het
Nup160	C	T	2: 90,560,138 (GRCm39)	P1288S	probably damaging	Het
Or52e15	T	C	7: 104,645,946 (GRCm39)	H55R	probably benign	Het
Or8g33	A	G	9: 39,337,506 (GRCm39)	L287P	probably benign	Het
Pam	T	A	1: 97,822,144 (GRCm39)	I287L	probably benign	Het
Phf10	T	C	17: 15,165,387 (GRCm39)	R490G	probably benign	Het
Prim2	T	C	1: 33,523,876 (GRCm39)	Y345C	probably damaging	Het
Ptchd3	C	T	11: 121,721,646 (GRCm39)	A173V	probably benign	Het
Rab8b	G	A	9: 66,755,912 (GRCm39)	R167W	probably damaging	Het
S100a3	A	G	3: 90,509,502 (GRCm39)	E49G	probably benign	Het
Slc41a1	T	A	1: 131,766,896 (GRCm39)	V138E	probably damaging	Het
Slit1	C	A	19: 41,591,764 (GRCm39)		probably null	Het
Sntg1	T	A	1: 8,433,814 (GRCm39)	H479L	probably damaging	Het
Stam	T	A	2: 14,120,801 (GRCm39)	C72S	probably damaging	Het
Sval2	G	T	6: 41,840,795 (GRCm39)	A93S	probably benign	Het
Tas2r103	T	A	6: 133,013,686 (GRCm39)	K127*	probably null	Het
Trank1	C	T	9: 111,193,890 (GRCm39)	T638M	probably benign	Het
Utrn	T	A	10: 12,519,173 (GRCm39)	I2260F	probably damaging	Het
Zfp268	G	C	4: 145,349,045 (GRCm39)	E161Q		Het
Zfp280d	T	C	9: 72,226,599 (GRCm39)		probably null	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
R9399:3425401B19Rik	UTSW	14	32,384,615 (GRCm39)	missense	probably damaging	0.98
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'- TCCTCTGTGAAGGACTTGCC -3'
(R):5'- CTCTAGGAGAGAGCAGCACTTG -3'

Sequencing Primer
(F):5'- TGAAGGACTTGCCCTCCCAG -3'
(R):5'- CCGCAGCCAGCAGTATTTG -3'

Posted On

2022-05-16