Mutagenetix > Incidental Mutation

Incidental Mutation 'R6136:3425401B19Rik'

488369

Institutional Source

Beutler Lab

Gene Symbol

3425401B19Rik

Ensembl Gene

ENSMUSG00000071540

Gene Name

RIKEN cDNA 3425401B19 gene

Synonyms

MMRRC Submission

044283-MU

Accession Numbers

Essential gene?

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

Stock #

R6136 (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 32384239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 575 (D575E)

Ref Sequence

ENSEMBL: ENSMUSP00000093741 (fasta)

Gene Model

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

AlphaFold

D3Z1D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096038
AA Change: D575E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: D575E

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,181 (GRCm39)	G124C	unknown	Het
Abca15	A	T	7: 119,939,272 (GRCm39)	H222L	possibly damaging	Het
Arhgef18	T	C	8: 3,504,507 (GRCm39)	V1013A	probably benign	Het
Arsj	T	C	3: 126,158,424 (GRCm39)	M1T	probably null	Het
Atp10a	A	C	7: 58,478,088 (GRCm39)	Q1377P	probably benign	Het
Atrip	T	A	9: 108,900,804 (GRCm39)	E178D	probably damaging	Het
Cblif	G	A	19: 11,727,649 (GRCm39)	A158T	probably damaging	Het
Chadl	T	C	15: 81,577,755 (GRCm39)	N625D	probably benign	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Cox11	T	C	11: 90,535,221 (GRCm39)	L84P	probably damaging	Het
Dchs1	T	G	7: 105,410,132 (GRCm39)	T1747P	probably benign	Het
Dnah12	A	G	14: 26,597,227 (GRCm39)	K3529E	probably damaging	Het
Ecd	T	C	14: 20,370,859 (GRCm39)	N620S	probably damaging	Het
Fbn1	T	A	2: 125,245,052 (GRCm39)	K278N	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fzd7	T	G	1: 59,522,419 (GRCm39)	F101V	probably damaging	Het
Galnt13	G	T	2: 54,406,491 (GRCm39)		probably benign	Het
Gm32647	C	T	7: 94,124,939 (GRCm39)			Het
Gm5624	A	T	14: 44,797,333 (GRCm39)	D152E	probably benign	Het
Heatr6	T	A	11: 83,663,329 (GRCm39)	V664E	possibly damaging	Het
Hpgd	A	G	8: 56,747,987 (GRCm39)	D36G	probably damaging	Het
Ifnlr1	A	G	4: 135,431,108 (GRCm39)	T199A	possibly damaging	Het
Kalrn	T	G	16: 34,177,481 (GRCm39)	D228A	probably damaging	Het
Miox	T	C	15: 89,219,524 (GRCm39)	M47T	probably damaging	Het
Nampt	A	T	12: 32,880,301 (GRCm39)	I65F	probably benign	Het
Ncf1	T	C	5: 134,255,487 (GRCm39)	K135E	probably damaging	Het
Nop53	G	A	7: 15,672,314 (GRCm39)	Q452*	probably null	Het
Or8u10	A	G	2: 85,915,245 (GRCm39)	L292S	probably damaging	Het
Pik3cg	A	G	12: 32,254,358 (GRCm39)	V543A	probably benign	Het
Ralgds	T	C	2: 28,440,577 (GRCm39)		probably null	Het
Rap1a	A	G	3: 105,657,598 (GRCm39)	V7A	probably damaging	Het
Rasal1	T	C	5: 120,813,543 (GRCm39)	V639A	possibly damaging	Het
Rassf8	A	G	6: 145,761,382 (GRCm39)	N236S	probably benign	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sbno1	T	C	5: 124,516,554 (GRCm39)	D1272G	probably benign	Het
Setx	A	G	2: 29,038,039 (GRCm39)	D1508G	probably benign	Het
Slc1a1	T	A	19: 28,882,810 (GRCm39)	L358Q	probably damaging	Het
Slc7a12	C	A	3: 14,564,186 (GRCm39)	L20I	probably benign	Het
Spata31g1	T	C	4: 42,972,853 (GRCm39)	S729P	probably damaging	Het
Spats2l	C	T	1: 57,941,302 (GRCm39)	T187M	probably damaging	Het
Specc1l	A	G	10: 75,082,494 (GRCm39)	D647G	probably benign	Het
Steap4	G	A	5: 8,028,562 (GRCm39)	R380Q	probably damaging	Het
Syne2	A	G	12: 75,952,099 (GRCm39)	S456G	probably benign	Het
Tfcp2	G	T	15: 100,410,194 (GRCm39)	T391N	probably damaging	Het
Tns2	T	A	15: 102,015,465 (GRCm39)	D122E	probably damaging	Het
Tshr	A	G	12: 91,505,008 (GRCm39)	M649V	probably benign	Het
Ubr3	A	G	2: 69,824,107 (GRCm39)	T1440A	probably benign	Het
Urb2	A	G	8: 124,756,831 (GRCm39)	D846G	probably benign	Het
Vmn1r202	T	C	13: 22,685,632 (GRCm39)	T262A	possibly damaging	Het
Vmn2r61	G	T	7: 41,916,455 (GRCm39)	W356L	probably damaging	Het
Wdr11	T	A	7: 129,220,427 (GRCm39)	M605K	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- CAGGGAGAGATGTTTCCGAG -3'
(R):5'- AGAGTACATACAGCCCCTTGC -3'

Sequencing Primer
(F):5'- GGAAGGTTTTCCCTGCAGTC -3'
(R):5'- GCCTCTCTTAAAAGGCTTTGATGAG -3'

Posted On

2017-10-10