Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02095:3425401B19Rik'

279559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

3425401B19Rik

Ensembl Gene

ENSMUSG00000071540

Gene Name

RIKEN cDNA 3425401B19 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

32659119-32685293 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32661626 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 794 (Q794L)

Ref Sequence

ENSEMBL: ENSMUSP00000093741 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096038
AA Change: Q794L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: Q794L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	C	A	6: 125,053,956	Y313*	probably null	Het
Adam9	A	G	8: 24,996,729	S178P	probably benign	Het
Adgrv1	T	C	13: 81,579,790	I244V	possibly damaging	Het
Atad5	A	G	11: 80,094,707	S207G	probably benign	Het
Atp10a	A	G	7: 58,807,393	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,310	I573T	probably benign	Het
Camsap3	A	G	8: 3,603,845	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,493	E438G	probably damaging	Het
Cisd2	T	C	3: 135,411,219	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,681,032	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,623,791	G544D	possibly damaging	Het
Dok2	G	T	14: 70,777,861	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,447,703	N87D	probably damaging	Het
Ehf	T	C	2: 103,266,991	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,180,536	T569A	probably damaging	Het
Fam151a	T	C	4: 106,747,875	V478A	probably damaging	Het
Fam227b	T	A	2: 126,101,004	H291L	probably damaging	Het
Fmn2	A	G	1: 174,502,601	T186A	unknown	Het
Ggnbp2	T	C	11: 84,833,128	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,608,803	M318I	probably benign	Het
Gprc5d	A	G	6: 135,116,177	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,232,787	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,702,005	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,700,027		probably benign	Het
Krt40	T	C	11: 99,541,671	D173G	probably damaging	Het
Lrrc27	C	T	7: 139,230,253	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,629,404	N125S	probably benign	Het
Mtor	C	T	4: 148,544,541	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,411,231	R866W	probably damaging	Het
Olfr1424	C	A	19: 12,059,549	V68F	probably benign	Het
Olfr982	T	A	9: 40,074,671	Y125*	probably null	Het
P2ry6	T	A	7: 100,938,864	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,756,156	S237T	probably benign	Het
Pck2	G	A	14: 55,542,510	R72Q	probably benign	Het
Pik3c2a	C	T	7: 116,346,188	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,454,610	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,327,006	D198E	probably benign	Het
Rasa1	T	A	13: 85,216,155	E1022D	probably benign	Het
Rbm25	T	C	12: 83,671,974	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,144,260	I488K	probably damaging	Het
Ryr2	T	A	13: 11,759,759	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,834,830	T1198P	probably damaging	Het
Sema3g	C	T	14: 31,227,824	T654I	probably benign	Het
Spag9	A	T	11: 94,108,582	H1108L	probably damaging	Het
Tcrg-C2	T	A	13: 19,307,410		probably benign	Het
Ubap2	T	C	4: 41,229,709	N142S	probably benign	Het
Usp33	T	C	3: 152,381,794	F699L	possibly damaging	Het
Ythdc2	A	G	18: 44,873,140		probably benign	Het

Other mutations in 3425401B19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:3425401B19Rik	APN	14	32660916	missense	probably benign	0.18
IGL00844:3425401B19Rik	APN	14	32662999	nonsense	probably null
IGL01292:3425401B19Rik	APN	14	32660874	missense	probably benign	0.18
IGL01295:3425401B19Rik	APN	14	32661936	missense	possibly damaging	0.53
IGL01457:3425401B19Rik	APN	14	32660951	missense	probably benign
IGL01470:3425401B19Rik	APN	14	32660457	missense	possibly damaging	0.53
IGL01612:3425401B19Rik	APN	14	32660031	missense	possibly damaging	0.53
IGL01974:3425401B19Rik	APN	14	32659805	missense	possibly damaging	0.85
IGL02138:3425401B19Rik	APN	14	32662715	missense	possibly damaging	0.83
IGL02178:3425401B19Rik	APN	14	32662461	missense	possibly damaging	0.83
IGL02245:3425401B19Rik	APN	14	32659815	missense	probably benign	0.03
IGL02529:3425401B19Rik	APN	14	32661233	missense	probably benign
IGL03401:3425401B19Rik	APN	14	32662266	nonsense	probably null
PIT4515001:3425401B19Rik	UTSW	14	32661111	nonsense	probably null
R0233:3425401B19Rik	UTSW	14	32663373	missense	probably benign
R0233:3425401B19Rik	UTSW	14	32663373	missense	probably benign
R0320:3425401B19Rik	UTSW	14	32662614	missense	probably benign	0.19
R0519:3425401B19Rik	UTSW	14	32662962	missense	possibly damaging	0.92
R0551:3425401B19Rik	UTSW	14	32662641	missense	probably benign	0.03
R0759:3425401B19Rik	UTSW	14	32662497	missense	possibly damaging	0.93
R0831:3425401B19Rik	UTSW	14	32662271	missense	probably benign	0.01
R1124:3425401B19Rik	UTSW	14	32662082	missense	possibly damaging	0.53
R1346:3425401B19Rik	UTSW	14	32660814	missense	probably benign	0.07
R1997:3425401B19Rik	UTSW	14	32660048	missense	possibly damaging	0.71
R2055:3425401B19Rik	UTSW	14	32662551	missense	probably benign
R2212:3425401B19Rik	UTSW	14	32661602	missense	probably benign	0.33
R2416:3425401B19Rik	UTSW	14	32663834	missense	probably benign	0.04
R2441:3425401B19Rik	UTSW	14	32663492	missense	possibly damaging	0.53
R2513:3425401B19Rik	UTSW	14	32661852	missense	possibly damaging	0.53
R3414:3425401B19Rik	UTSW	14	32661602	missense	probably benign	0.33
R3800:3425401B19Rik	UTSW	14	32663068	missense	possibly damaging	0.83
R3809:3425401B19Rik	UTSW	14	32663693	missense	possibly damaging	0.96
R4166:3425401B19Rik	UTSW	14	32660955	missense	possibly damaging	0.53
R4581:3425401B19Rik	UTSW	14	32661871	missense	possibly damaging	0.73
R4721:3425401B19Rik	UTSW	14	32663150	missense	probably benign	0.01
R4769:3425401B19Rik	UTSW	14	32660217	missense	probably benign	0.32
R4809:3425401B19Rik	UTSW	14	32662631	missense	probably benign	0.19
R4919:3425401B19Rik	UTSW	14	32663288	missense	possibly damaging	0.85
R4925:3425401B19Rik	UTSW	14	32663180	missense	possibly damaging	0.86
R4972:3425401B19Rik	UTSW	14	32661404	missense	possibly damaging	0.73
R5068:3425401B19Rik	UTSW	14	32661792	missense	possibly damaging	0.73
R5069:3425401B19Rik	UTSW	14	32661792	missense	possibly damaging	0.73
R5070:3425401B19Rik	UTSW	14	32661792	missense	possibly damaging	0.73
R5258:3425401B19Rik	UTSW	14	32663309	missense	probably damaging	0.98
R5435:3425401B19Rik	UTSW	14	32661456	missense	probably benign	0.18
R5549:3425401B19Rik	UTSW	14	32663036	missense	possibly damaging	0.68
R5678:3425401B19Rik	UTSW	14	32662053	missense	probably damaging	0.97
R5680:3425401B19Rik	UTSW	14	32662053	missense	probably damaging	0.97
R5872:3425401B19Rik	UTSW	14	32660352	missense	possibly damaging	0.73
R5896:3425401B19Rik	UTSW	14	32661675	nonsense	probably null
R5940:3425401B19Rik	UTSW	14	32662688	missense	possibly damaging	0.91
R6044:3425401B19Rik	UTSW	14	32660657	missense	possibly damaging	0.53
R6136:3425401B19Rik	UTSW	14	32662282	missense	possibly damaging	0.70
R6277:3425401B19Rik	UTSW	14	32663694	missense	possibly damaging	0.86
R6385:3425401B19Rik	UTSW	14	32661279	missense	probably benign	0.01
R6728:3425401B19Rik	UTSW	14	32662688	missense	possibly damaging	0.91
R6984:3425401B19Rik	UTSW	14	32661980	missense	probably benign	0.00
R7047:3425401B19Rik	UTSW	14	32660174	missense	possibly damaging	0.89
R7249:3425401B19Rik	UTSW	14	32663314	missense	possibly damaging	0.73
R7493:3425401B19Rik	UTSW	14	32663300	missense	possibly damaging	0.96
R7575:3425401B19Rik	UTSW	14	32662632	missense	probably benign	0.03
R7742:3425401B19Rik	UTSW	14	32662757	missense	possibly damaging	0.68
R7747:3425401B19Rik	UTSW	14	32663069	missense	possibly damaging	0.83
R7784:3425401B19Rik	UTSW	14	32659840	missense	probably benign	0.00
R8098:3425401B19Rik	UTSW	14	32662661	missense	probably damaging	0.99
R8111:3425401B19Rik	UTSW	14	32660309	nonsense	probably null
R8171:3425401B19Rik	UTSW	14	32662025	missense	probably benign
R8276:3425401B19Rik	UTSW	14	32663928	missense	probably damaging	0.97
R8330:3425401B19Rik	UTSW	14	32659793	missense	probably damaging	0.98
R8422:3425401B19Rik	UTSW	14	32662297	missense	possibly damaging	0.84
R8464:3425401B19Rik	UTSW	14	32659977	missense	possibly damaging	0.53
X0025:3425401B19Rik	UTSW	14	32662469	missense	probably damaging	0.98
Z1177:3425401B19Rik	UTSW	14	32659808	missense	possibly damaging	0.86
Z1177:3425401B19Rik	UTSW	14	32661398	missense	probably damaging	0.99

Posted On

2015-04-16