Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:Polr1g'

294790

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr1g

Ensembl Gene

ENSMUSG00000047649

Gene Name

RNA polymerase I subunit G

Synonyms

2610103M17Rik, PAF49, Ase1, Cd3eap

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

19089939-19093408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19093030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 50 (D50G)

Ref Sequence

ENSEMBL: ENSMUSP00000044653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003645] [ENSMUST00000047036] [ENSMUST00000047621] [ENSMUST00000127785] [ENSMUST00000140836] [ENSMUST00000160369]

AlphaFold

Q76KJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000003645

SMART Domains

Protein: ENSMUSP00000003645
Gene: ENSMUSG00000003549

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
Pfam:Rad10	100	213	2.9e-55	PFAM
HhH1	269	288	4.04e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000047036
AA Change: D50G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044653
Gene: ENSMUSG00000047649
AA Change: D50G

Domain	Start	End	E-Value	Type
Pfam:RNA_polI_A34	37	397	7.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047621

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC
low complexity region	349	370	N/A	INTRINSIC
low complexity region	401	440	N/A	INTRINSIC
low complexity region	453	472	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC
low complexity region	575	600	N/A	INTRINSIC
low complexity region	616	632	N/A	INTRINSIC
ANK	655	684	2.25e-3	SMART
ANK	688	717	1.31e-4	SMART
SH3	757	815	4.66e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127785

SMART Domains

Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140836

SMART Domains

Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162992

Predicted Effect

probably benign
Transcript: ENSMUST00000160369

SMART Domains

Protein: ENSMUSP00000125655
Gene: ENSMUSG00000003549

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
Pfam:Rad10	99	166	1.6e-34	PFAM
low complexity region	232	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177486

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	A	G	15: 76,834,578 (GRCm39)	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,412,010 (GRCm39)	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,861,546 (GRCm39)	T267I	probably damaging	Het
Becn1	C	T	11: 101,182,224 (GRCm39)	G115D	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd6	A	C	2: 160,826,372 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,699,602 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnm2	A	G	9: 21,397,004 (GRCm39)	I494V	possibly damaging	Het
Dock2	T	A	11: 34,199,801 (GRCm39)	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,821,701 (GRCm39)	H339R	probably benign	Het
Espnl	C	T	1: 91,268,256 (GRCm39)	P294L	probably benign	Het
Ftmt	T	A	18: 52,464,912 (GRCm39)	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,506,803 (GRCm39)		probably benign	Het
Hadhb	T	A	5: 30,389,061 (GRCm39)	M468K	possibly damaging	Het
Hfm1	A	G	5: 107,021,794 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,445,338 (GRCm39)		probably benign	Het
Ipo7	T	A	7: 109,640,060 (GRCm39)	F288I	probably damaging	Het
Kcnv1	T	A	15: 44,972,519 (GRCm39)	K455*	probably null	Het
Kdm5a	A	G	6: 120,383,691 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,747,958 (GRCm39)	S3122F	probably benign	Het
Kndc1	A	G	7: 139,490,817 (GRCm39)	I440V	probably benign	Het
Mib2	T	A	4: 155,741,203 (GRCm39)	I545F	probably damaging	Het
Nav2	C	T	7: 49,195,789 (GRCm39)	P1055L	probably damaging	Het
Or4c10b	T	A	2: 89,711,755 (GRCm39)	I195N	probably benign	Het
Or5v1b	C	A	17: 37,841,640 (GRCm39)	F257L	probably damaging	Het
Plch1	A	T	3: 63,609,270 (GRCm39)	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,627,623 (GRCm39)	I396V	possibly damaging	Het
Ryr1	A	T	7: 28,740,269 (GRCm39)	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,582,658 (GRCm39)	T80A	probably damaging	Het
Sema3f	C	T	9: 107,564,935 (GRCm39)	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,223,953 (GRCm39)		probably benign	Het
Siglec15	T	A	18: 78,086,832 (GRCm39)	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,541,054 (GRCm39)	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,400,505 (GRCm39)	V705A	probably benign	Het
Tenm4	T	C	7: 96,423,383 (GRCm39)		probably benign	Het
Tm6sf1	A	T	7: 81,525,572 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,899,119 (GRCm39)	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,944,971 (GRCm39)	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,471,536 (GRCm39)		probably null	Het
Usp28	T	A	9: 48,949,069 (GRCm39)	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,058,960 (GRCm39)	I534V	probably benign	Het
Wdr89	A	T	12: 75,679,743 (GRCm39)	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,208,993 (GRCm39)	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Polr1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02028:Polr1g	APN	7	19,091,003 (GRCm39)	missense	probably damaging	1.00
FR4548:Polr1g	UTSW	7	19,091,169 (GRCm39)	unclassified	probably benign
R0544:Polr1g	UTSW	7	19,093,066 (GRCm39)	missense	probably damaging	1.00
R0785:Polr1g	UTSW	7	19,091,210 (GRCm39)	missense	probably benign	0.06
R1793:Polr1g	UTSW	7	19,091,904 (GRCm39)	missense	possibly damaging	0.61
R4863:Polr1g	UTSW	7	19,091,684 (GRCm39)	missense	probably damaging	1.00
R4971:Polr1g	UTSW	7	19,091,487 (GRCm39)	missense	probably benign
R6161:Polr1g	UTSW	7	19,091,558 (GRCm39)	missense	possibly damaging	0.62
R7340:Polr1g	UTSW	7	19,093,073 (GRCm39)	missense	probably benign	0.41
R8857:Polr1g	UTSW	7	19,093,355 (GRCm39)	unclassified	probably benign
R9532:Polr1g	UTSW	7	19,091,817 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16