Mutagenetix > Incidental Mutation

Incidental Mutation 'R4065:Utp6'

316071

Institutional Source

Beutler Lab

Gene Symbol

Utp6

Ensembl Gene

ENSMUSG00000035575

Gene Name

UTP6 small subunit processome component

Synonyms

HCA66, 4732497O03Rik

MMRRC Submission

040972-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R4065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79824782-79853213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79837073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 337 (R337G)

Ref Sequence

ENSEMBL: ENSMUSP00000103876 (fasta)

Gene Model

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

AlphaFold

Q8VCY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043152
AA Change: R337G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: R337G

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 damaging
Transcript: ENSMUST00000108241
AA Change: R337G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: R337G

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: ENSMUST00000131921

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	T	3: 89,966,073 (GRCm39)	R178*	probably null	Het
Abcc9	T	C	6: 142,591,616 (GRCm39)	E769G	probably damaging	Het
Adcy9	C	A	16: 4,106,298 (GRCm39)	V939F	probably damaging	Het
Atg2a	T	C	19: 6,308,396 (GRCm39)	F1643S	probably damaging	Het
B430305J03Rik	A	G	3: 61,271,646 (GRCm39)		probably benign	Het
C2cd5	A	G	6: 143,019,397 (GRCm39)	I306T	probably benign	Het
Camk1d	A	T	2: 5,570,584 (GRCm39)	F26I	probably damaging	Het
Cant1	G	T	11: 118,298,823 (GRCm39)	D313E	probably benign	Het
Dhx29	T	A	13: 113,101,276 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,492,405 (GRCm39)	I1182V	probably benign	Het
Dnajc21	A	G	15: 10,451,639 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Fat4	A	T	3: 39,063,346 (GRCm39)	H4434L	probably benign	Het
Fbxo16	T	A	14: 65,508,278 (GRCm39)	N31K	probably damaging	Het
Foxj3	T	C	4: 119,467,206 (GRCm39)	I183T	probably benign	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fshr	T	C	17: 89,293,394 (GRCm39)	Y428C	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm12258	C	T	11: 58,749,352 (GRCm39)	L176F	probably benign	Het
Grem1	A	G	2: 113,580,033 (GRCm39)	L156P	probably damaging	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Lamc3	C	A	2: 31,835,270 (GRCm39)	H1530Q	probably benign	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mga	T	C	2: 119,777,483 (GRCm39)	V1846A	probably damaging	Het
Mthfd1l	A	G	10: 3,982,242 (GRCm39)	H483R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Mvp	A	G	7: 126,595,489 (GRCm39)	V207A	probably damaging	Het
Nsun2	T	C	13: 69,760,579 (GRCm39)		probably null	Het
Or13a26	T	C	7: 140,284,182 (GRCm39)	L6P	probably benign	Het
Or8g55	T	C	9: 39,784,718 (GRCm39)	I49T	possibly damaging	Het
Pcnx4	T	C	12: 72,603,134 (GRCm39)		probably null	Het
Plxna4	T	A	6: 32,213,300 (GRCm39)	K637*	probably null	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Prb1a	T	A	6: 132,184,658 (GRCm39)	Q325L	unknown	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Spcs2	A	G	7: 99,494,012 (GRCm39)	I164T	possibly damaging	Het
Ssbp4	T	C	8: 71,052,210 (GRCm39)	T77A	possibly damaging	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uhrf1	T	A	17: 56,625,020 (GRCm39)	I521N	probably damaging	Het
Uros	A	G	7: 133,304,057 (GRCm39)		probably null	Het
Usp47	A	G	7: 111,652,623 (GRCm39)	D100G	probably benign	Het
Vcan	T	C	13: 89,828,006 (GRCm39)	T3147A	probably damaging	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Zfp654	G	A	16: 64,606,288 (GRCm39)	T638M	possibly 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
R5465:Utp6	UTSW	11	79,839,836 (GRCm39)	missense	probably benign	0.08
R5774:Utp6	UTSW	11	79,844,424 (GRCm39)	missense	probably benign
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'- GATCTTCACGATGACGGGTC -3'
(R):5'- GAGTTTCCTCTTCAAAGAAAGGC -3'

Sequencing Primer
(F):5'- ATGACGGGTCACCCACAG -3'
(R):5'- TTTAATCCCAGGCAGAGGC -3'

Posted On

2015-05-15