Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Utp15'

631225

Institutional Source

Beutler Lab

Gene Symbol

Utp15

Ensembl Gene

ENSMUSG00000041747

Gene Name

UTP15 small subunit processome component

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98246845-98263041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98250863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 401 (T401I)

Ref Sequence

ENSEMBL: ENSMUSP00000048204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040972]

AlphaFold

Q8C7V3

Predicted Effect

probably benign
Transcript: ENSMUST00000040972
AA Change: T401I

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

SMART Domains

Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
AA Change: T401I

Domain	Start	End	E-Value	Type
WD40	31	66	6.85e1	SMART
WD40	69	108	1.66e-5	SMART
WD40	111	150	2.82e-8	SMART
WD40	153	193	7.33e-7	SMART
WD40	196	233	3.9e-2	SMART
WD40	237	276	1.39e-7	SMART
WD40	279	317	1.7e2	SMART
Pfam:UTP15_C	343	490	3.5e-50	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,091,594	N7K	probably benign	Het
Akap9	T	A	5: 4,061,183	D3081E	probably benign	Het
Amer2	G	A	14: 60,379,405	A350T	probably damaging	Het
Amotl1	A	G	9: 14,555,572		probably null	Het
Ankib1	A	T	5: 3,702,995	V651E	probably damaging	Het
Aox1	T	C	1: 58,076,124	V756A	probably damaging	Het
Arap2	A	C	5: 62,730,611	I464S	probably benign	Het
Atp8a2	A	C	14: 60,026,208	M359R	probably damaging	Het
Aunip	T	C	4: 134,523,307	S188P	possibly damaging	Het
Cdt1	A	G	8: 122,571,989	E455G	probably benign	Het
Cyp2r1	G	T	7: 114,550,355	H475N	probably benign	Het
Dnah7a	G	T	1: 53,503,890	H2374N	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dst	G	A	1: 34,274,180	A4343T	probably benign	Het
Efcab3	A	G	11: 105,111,851	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,751,790	L409P	probably damaging	Het
Eno1	G	T	4: 150,241,069	S37I	probably damaging	Het
Ermp1	A	T	19: 29,623,796	L517Q	probably damaging	Het
Farp1	T	G	14: 121,233,820	I196S	probably damaging	Het
Fbxo21	A	G	5: 117,990,854	T310A	possibly damaging	Het
Fbxo31	C	T	8: 121,560,388	V149M	probably damaging	Het
Ggcx	C	A	6: 72,429,528	T658N	possibly damaging	Het
Gm884	A	T	11: 103,543,289	M3018K	unknown	Het
Gpc5	A	C	14: 115,399,225	H440P	probably damaging	Het
H13	C	T	2: 152,695,526	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,155,469	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,730,180	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251	A263S	probably benign	Het
Il1a	C	A	2: 129,302,944	V185F	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Kdm4d	T	A	9: 14,463,941	K207M	probably damaging	Het
Lrrc4b	T	C	7: 44,461,109	L135P	probably damaging	Het
Lrrk1	A	G	7: 66,262,623	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,042,206	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,611,930	R937*	probably null	Het
Muc16	T	A	9: 18,658,737	T829S	unknown	Het
Mum1	G	A	10: 80,240,397	G474S	probably damaging	Het
Myof	A	C	19: 37,932,719	I1365S	probably damaging	Het
Npc2	C	T	12: 84,760,838	R82Q	probably benign	Het
Olfr1123	T	A	2: 87,418,737	S228T	probably damaging	Het
Olfr117	G	A	17: 37,659,740	L198F	probably damaging	Het
Olfr1295	T	C	2: 111,565,438	D2G	probably benign	Het
Olfr418	T	A	1: 173,270,480	F102I	possibly damaging	Het
Olfr918	A	T	9: 38,673,168	I92N	possibly damaging	Het
Olfr926	T	A	9: 38,877,730	S185T	probably damaging	Het
Olfr934	A	T	9: 38,982,873	M57K	probably damaging	Het
Pdzph1	T	C	17: 58,975,143	N48S	probably benign	Het
Plce1	A	T	19: 38,524,818	H187L	probably benign	Het
Pramel6	G	T	2: 87,508,464	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,797,574		probably null	Het
Rabgap1l	A	G	1: 160,702,442	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,722,670	S625P	probably damaging	Het
Rhot1	A	T	11: 80,251,053	K461I	probably benign	Het
Rpa1	G	A	11: 75,302,675	T610I	possibly damaging	Het
Ryr1	G	T	7: 29,110,883	H316N	probably benign	Het
Shprh	T	C	10: 11,213,461	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Spata6	A	G	4: 111,828,320	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,139,117	I715N	probably damaging	Het
Stab1	A	T	14: 31,158,953	D627E	possibly damaging	Het
Stard9	T	A	2: 120,664,939	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,960,483	K267N	probably benign	Het
Topaz1	C	T	9: 122,775,643	A1104V	probably benign	Het
Trmt11	A	G	10: 30,566,494	I231T	possibly damaging	Het
Vmn2r13	T	C	5: 109,175,060	K121R	probably benign	Het
Xab2	C	T	8: 3,613,830	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,168,860	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,217,600	S357T	probably damaging	Het

Other mutations in Utp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02951:Utp15	APN	13	98257952	missense	probably damaging	1.00
IGL02960:Utp15	APN	13	98252881	missense	probably benign	0.30
IGL03271:Utp15	APN	13	98253694	missense	probably damaging	1.00
R0125:Utp15	UTSW	13	98250882	missense	possibly damaging	0.81
R0679:Utp15	UTSW	13	98259403	missense	probably benign	0.13
R1447:Utp15	UTSW	13	98252878	missense	possibly damaging	0.68
R1618:Utp15	UTSW	13	98257187	missense	probably benign	0.16
R1992:Utp15	UTSW	13	98250912	missense	probably benign
R2110:Utp15	UTSW	13	98254985	missense	probably damaging	1.00
R2263:Utp15	UTSW	13	98257925	missense	probably benign	0.03
R3888:Utp15	UTSW	13	98259166	missense	probably benign	0.00
R4355:Utp15	UTSW	13	98259247	missense	possibly damaging	0.48
R5436:Utp15	UTSW	13	98260846	splice site	probably null
R5568:Utp15	UTSW	13	98257925	missense	probably benign	0.03
R6489:Utp15	UTSW	13	98250609	missense	probably damaging	0.96
R8360:Utp15	UTSW	13	98254991	missense	probably damaging	1.00
R9049:Utp15	UTSW	13	98259270	missense	probably damaging	1.00
R9370:Utp15	UTSW	13	98250611	missense	probably damaging	0.96
R9654:Utp15	UTSW	13	98249160	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATTCCTGCAGAGCAAAACTTC -3'
(R):5'- AAACCTGGGGCTAGGACATG -3'

Sequencing Primer
(F):5'- GACTTTTGTAAGCCTCACAAAAAG -3'
(R):5'- CTAGGACATGTGGGGGATCC -3'

Posted On

2020-06-30