Mutagenetix > Incidental Mutation

Incidental Mutation 'R5774:Utp6'

445572

Institutional Source

Beutler Lab

Gene Symbol

Utp6

Ensembl Gene

ENSMUSG00000035575

Gene Name

UTP6 small subunit processome component

Synonyms

HCA66, 4732497O03Rik

MMRRC Submission

043373-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79824782-79853213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79844424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 200 (F200L)

Ref Sequence

ENSEMBL: ENSMUSP00000103876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043152] [ENSMUST00000108241]

AlphaFold

Q8VCY6

Predicted Effect

probably benign
Transcript: ENSMUST00000043152
AA Change: F200L

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

SMART Domains

Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: F200L

Domain	Start	End	E-Value	Type
Blast:HAT	25	63	5e-11	BLAST
HAT	87	119	6.33e2	SMART
HAT	121	153	5.54e-1	SMART
HAT	156	188	2.41e-1	SMART
HAT	305	336	4.13e0	SMART
Blast:HAT	350	382	1e-11	BLAST
Blast:HAT	418	451	2e-9	BLAST
Blast:HAT	454	487	3e-12	BLAST
HAT	489	521	8.05e0	SMART
HAT	525	558	9.13e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108241
AA Change: F200L

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

SMART Domains

Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: F200L

Domain	Start	End	E-Value	Type
Blast:HAT	25	63	5e-11	BLAST
HAT	87	119	6.33e2	SMART
HAT	121	153	5.54e-1	SMART
HAT	156	188	2.41e-1	SMART
HAT	305	336	4.13e0	SMART
Blast:HAT	350	382	1e-11	BLAST
Blast:HAT	418	451	2e-9	BLAST
Blast:HAT	454	487	3e-12	BLAST
HAT	489	521	8.05e0	SMART
HAT	525	558	9.13e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146127

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,581,668 (GRCm39)	L62M	probably damaging	Het
Abcc9	G	A	6: 142,574,285 (GRCm39)	T949I	probably damaging	Het
Adam4	C	T	12: 81,467,460 (GRCm39)	S387N	probably damaging	Het
Akap11	T	C	14: 78,748,407 (GRCm39)	S1327G	probably damaging	Het
Arhgap1	A	G	2: 91,484,453 (GRCm39)	T12A	possibly damaging	Het
Arhgap28	A	G	17: 68,188,487 (GRCm39)	S228P	possibly damaging	Het
Atp6v1b2	A	T	8: 69,554,613 (GRCm39)	D106V	probably damaging	Het
Atp9b	T	G	18: 80,977,147 (GRCm39)	D3A	probably damaging	Het
Bptf	A	G	11: 107,001,963 (GRCm39)	F383S	probably damaging	Het
Cdh24	T	C	14: 54,876,514 (GRCm39)	T104A	probably damaging	Het
Cep55	A	G	19: 38,051,103 (GRCm39)	E171G	probably damaging	Het
Cntrl	T	A	2: 35,052,873 (GRCm39)	M1126K	probably benign	Het
Cts3	A	T	13: 61,716,184 (GRCm39)	I59N	probably damaging	Het
Ddx52	A	G	11: 83,836,960 (GRCm39)	I150M	probably damaging	Het
Dennd6a	T	C	14: 26,300,974 (GRCm39)	V62A	probably benign	Het
Dpep1	C	A	8: 123,926,721 (GRCm39)	D211E	probably damaging	Het
Gm1527	T	C	3: 28,972,239 (GRCm39)	V452A	probably benign	Het
Hmcn2	T	C	2: 31,299,147 (GRCm39)	V2831A	possibly damaging	Het
Hrob	T	A	11: 102,146,495 (GRCm39)	I257N	possibly damaging	Het
Hydin	G	T	8: 111,298,547 (GRCm39)	E3722*	probably null	Het
Il17a	A	G	1: 20,803,997 (GRCm39)	S131G	probably benign	Het
Ing3	C	T	6: 21,967,688 (GRCm39)	P119S	probably benign	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lca5l	G	T	16: 95,977,261 (GRCm39)	Q177K	probably benign	Het
Lrrc61	C	T	6: 48,545,133 (GRCm39)		probably benign	Het
Man2a2	T	C	7: 80,018,106 (GRCm39)	Y188C	probably damaging	Het
Mdk	T	C	2: 91,761,569 (GRCm39)	E36G	probably damaging	Het
Mmp12	T	C	9: 7,354,823 (GRCm39)	I272T	possibly damaging	Het
Myh4	A	T	11: 67,144,034 (GRCm39)	K1135*	probably null	Het
Nup188	T	A	2: 30,191,060 (GRCm39)	Y96N	probably damaging	Het
Or8k33	A	T	2: 86,384,351 (GRCm39)	V39E	possibly damaging	Het
Pank4	G	A	4: 155,065,119 (GRCm39)	G806D	probably damaging	Het
Parp14	T	C	16: 35,678,780 (GRCm39)	Y396C	probably damaging	Het
Pcdhb8	T	A	18: 37,489,738 (GRCm39)	I472N	probably damaging	Het
Sema3a	T	A	5: 13,573,131 (GRCm39)	W220R	probably damaging	Het
Slc35g3	A	G	11: 69,651,124 (GRCm39)	V309A	probably damaging	Het
Slc6a6	A	G	6: 91,721,981 (GRCm39)	M394V	probably damaging	Het
Specc1l	G	A	10: 75,081,234 (GRCm39)	R210H	probably damaging	Het
Spocd1	T	A	4: 129,845,579 (GRCm39)	S480T	probably benign	Het
Sptbn5	T	A	2: 119,880,939 (GRCm39)		noncoding transcript	Het
Srrm2	A	G	17: 24,037,249 (GRCm39)		probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Topbp1	A	G	9: 103,205,698 (GRCm39)	K779E	probably benign	Het
Trank1	T	A	9: 111,220,294 (GRCm39)	F2344I	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Ube4a	G	A	9: 44,864,395 (GRCm39)	P66L	probably damaging	Het
Vmn2r117	A	T	17: 23,696,176 (GRCm39)	H410Q	probably damaging	Het
Vps33b	C	T	7: 79,935,088 (GRCm39)	H344Y	probably benign	Het
Xpo5	C	T	17: 46,552,772 (GRCm39)	R1145*	probably null	Het
Zbed4	T	A	15: 88,665,852 (GRCm39)	F640Y	possibly damaging	Het
Zfp618	C	T	4: 63,050,799 (GRCm39)	R527C	probably damaging	Het

Other mutations in Utp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Utp6	APN	11	79,846,531 (GRCm39)	nonsense	probably null
IGL02889:Utp6	APN	11	79,839,896 (GRCm39)	missense	possibly damaging	0.88
IGL03028:Utp6	APN	11	79,844,450 (GRCm39)	missense	probably damaging	0.99
IGL03040:Utp6	APN	11	79,826,939 (GRCm39)	splice site	probably benign
IGL03084:Utp6	APN	11	79,853,042 (GRCm39)	critical splice donor site	probably null
IGL03236:Utp6	APN	11	79,851,567 (GRCm39)	splice site	probably benign
PIT4382001:Utp6	UTSW	11	79,853,099 (GRCm39)	missense	probably benign	0.02
R0082:Utp6	UTSW	11	79,844,457 (GRCm39)	missense	possibly damaging	0.80
R0140:Utp6	UTSW	11	79,847,551 (GRCm39)	splice site	probably benign
R0962:Utp6	UTSW	11	79,832,694 (GRCm39)	splice site	probably benign
R1485:Utp6	UTSW	11	79,839,749 (GRCm39)	missense	probably damaging	1.00
R2376:Utp6	UTSW	11	79,846,439 (GRCm39)	missense	probably damaging	0.99
R2380:Utp6	UTSW	11	79,826,831 (GRCm39)	missense	possibly damaging	0.67
R4065:Utp6	UTSW	11	79,837,073 (GRCm39)	missense	probably damaging	1.00
R5465:Utp6	UTSW	11	79,839,836 (GRCm39)	missense	probably benign	0.08
R6842:Utp6	UTSW	11	79,831,775 (GRCm39)	missense	probably benign	0.00
R7507:Utp6	UTSW	11	79,833,012 (GRCm39)	missense	possibly damaging	0.53
R7793:Utp6	UTSW	11	79,828,556 (GRCm39)	missense	probably benign	0.00
R8349:Utp6	UTSW	11	79,836,610 (GRCm39)	missense	probably benign	0.00
R8449:Utp6	UTSW	11	79,836,610 (GRCm39)	missense	probably benign	0.00
R8856:Utp6	UTSW	11	79,842,455 (GRCm39)	missense	probably benign	0.12
R8930:Utp6	UTSW	11	79,834,055 (GRCm39)	critical splice donor site	probably null
R8932:Utp6	UTSW	11	79,834,055 (GRCm39)	critical splice donor site	probably null
R9282:Utp6	UTSW	11	79,826,851 (GRCm39)	missense	probably benign	0.12
Z1176:Utp6	UTSW	11	79,826,788 (GRCm39)	missense	probably damaging	1.00
Z1177:Utp6	UTSW	11	79,832,735 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCAGTGGGGAAAAGATTC -3'
(R):5'- ATTCCAAAGTCAAATGTGGTCCTC -3'

Sequencing Primer
(F):5'- AAGCTGACCTCTGACCTCC -3'
(R):5'- AAGTCAAATGTGGTCCTCTCATTTTC -3'

Posted On

2016-11-21