Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:Utp23'

282365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp23

Ensembl Gene

ENSMUSG00000022313

Gene Name

UTP23 small subunit processome component

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

51877429-51884614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51882365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 87 (R87K)

Ref Sequence

ENSEMBL: ENSMUSP00000124832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059599] [ENSMUST00000136129] [ENSMUST00000137116] [ENSMUST00000161651]

AlphaFold

Q9CX11

Predicted Effect

probably benign
Transcript: ENSMUST00000059599

Predicted Effect

probably benign
Transcript: ENSMUST00000136129
AA Change: R87K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124832
Gene: ENSMUSG00000022313
AA Change: R87K

Domain	Start	End	E-Value	Type
Pfam:Fcf1	1	44	4.7e-12	PFAM
low complexity region	85	93	N/A	INTRINSIC
low complexity region	119	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137116
AA Change: R193K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119261
Gene: ENSMUSG00000022313
AA Change: R193K

Domain	Start	End	E-Value	Type
Pfam:Fcf1	51	149	2.5e-32	PFAM
low complexity region	191	199	N/A	INTRINSIC
low complexity region	225	235	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000161651

SMART Domains

Protein: ENSMUSP00000124157
Gene: ENSMUSG00000022313

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
low complexity region	57	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227812

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
2210010C04Rik	T	C	6: 41,032,957	T148A	probably benign	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
BC030867	G	A	11: 102,260,165		probably null	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nlrp12	A	T	7: 3,249,545		probably benign	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina1a	C	T	12: 103,854,706	G338R	probably damaging	Het
Serpina5	T	C	12: 104,105,298	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,619,666	S287A	probably benign	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	Het

Other mutations in Utp23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01971:Utp23	APN	15	51882275	missense	probably benign	0.18
R0114:Utp23	UTSW	15	51882511	missense	probably damaging	0.98
R0703:Utp23	UTSW	15	51882356	small deletion	probably benign
R0714:Utp23	UTSW	15	51882269	missense	possibly damaging	0.48
R5000:Utp23	UTSW	15	51882173	missense	probably damaging	1.00
R6796:Utp23	UTSW	15	51877611	missense	probably damaging	1.00
R8195:Utp23	UTSW	15	51882202	missense	possibly damaging	0.92
R8497:Utp23	UTSW	15	51882218	missense	probably damaging	1.00

Posted On

2015-04-16