Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Utp14b'

435582

Institutional Source

Beutler Lab

Gene Symbol

Utp14b

Ensembl Gene

ENSMUSG00000079470

Gene Name

UTP14B small subunit processome component

Synonyms

4932411L21Rik, jsd

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78635600-78645305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78643118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 339 (D339N)

Ref Sequence

ENSEMBL: ENSMUSP00000121391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000053760] [ENSMUST00000134566] [ENSMUST00000142704] [ENSMUST00000151622]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035779

SMART Domains

Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:AMP-binding	113	587	2e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053760
AA Change: D339N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: D339N

Domain	Start	End	E-Value	Type
Pfam:Utp14	39	744	6.4e-205	PFAM
low complexity region	758	778	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134566

SMART Domains

Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	1	435	4.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142704

SMART Domains

Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:AMP-binding	113	587	2.5e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151622
AA Change: D339N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: D339N

Domain	Start	End	E-Value	Type
Pfam:Utp14	45	743	6e-163	PFAM
low complexity region	758	778	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous males are sterile with spermatogonial arrest and elevated intratesticular testosterone levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	probably damaging	Het

Other mutations in Utp14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Utp14b	APN	1	78,642,262 (GRCm39)	missense	probably damaging	1.00
IGL01837:Utp14b	APN	1	78,642,636 (GRCm39)	missense	probably damaging	1.00
IGL02895:Utp14b	APN	1	78,642,324 (GRCm39)	missense	possibly damaging	0.61
IGL03165:Utp14b	APN	1	78,642,237 (GRCm39)	missense	probably damaging	0.97
IGL03210:Utp14b	APN	1	78,643,268 (GRCm39)	missense	probably benign	0.02
R0662:Utp14b	UTSW	1	78,642,716 (GRCm39)	missense	probably damaging	1.00
R0671:Utp14b	UTSW	1	78,642,452 (GRCm39)	missense	probably benign	0.00
R0736:Utp14b	UTSW	1	78,642,989 (GRCm39)	missense	probably damaging	1.00
R1180:Utp14b	UTSW	1	78,643,162 (GRCm39)	missense	probably damaging	1.00
R1430:Utp14b	UTSW	1	78,644,111 (GRCm39)	missense	probably benign	0.25
R1448:Utp14b	UTSW	1	78,643,162 (GRCm39)	missense	probably damaging	1.00
R1641:Utp14b	UTSW	1	78,643,656 (GRCm39)	missense	probably benign	0.08
R1867:Utp14b	UTSW	1	78,643,148 (GRCm39)	missense	probably damaging	1.00
R3054:Utp14b	UTSW	1	78,642,442 (GRCm39)	missense	possibly damaging	0.91
R3055:Utp14b	UTSW	1	78,642,442 (GRCm39)	missense	possibly damaging	0.91
R3056:Utp14b	UTSW	1	78,642,442 (GRCm39)	missense	possibly damaging	0.91
R3426:Utp14b	UTSW	1	78,643,056 (GRCm39)	missense	probably damaging	1.00
R3744:Utp14b	UTSW	1	78,642,973 (GRCm39)	missense	probably benign	0.03
R4204:Utp14b	UTSW	1	78,642,539 (GRCm39)	missense	probably benign	0.12
R5574:Utp14b	UTSW	1	78,644,126 (GRCm39)	missense	probably damaging	1.00
R5958:Utp14b	UTSW	1	78,642,660 (GRCm39)	missense	probably damaging	1.00
R5958:Utp14b	UTSW	1	78,642,659 (GRCm39)	nonsense	probably null
R6173:Utp14b	UTSW	1	78,643,557 (GRCm39)	missense	probably benign	0.00
R6173:Utp14b	UTSW	1	78,643,554 (GRCm39)	missense	probably benign	0.03
R7258:Utp14b	UTSW	1	78,642,691 (GRCm39)	missense	probably benign	0.30
R7784:Utp14b	UTSW	1	78,642,660 (GRCm39)	missense	probably damaging	0.96
R8697:Utp14b	UTSW	1	78,644,244 (GRCm39)	missense	probably benign
R8983:Utp14b	UTSW	1	78,643,003 (GRCm39)	missense	probably benign	0.03
R9119:Utp14b	UTSW	1	78,643,025 (GRCm39)	missense	probably damaging	0.98
R9574:Utp14b	UTSW	1	78,643,482 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTATGAGGCTAGAGCTCGAAG -3'
(R):5'- TCCAGGGATTTACACCATCTGC -3'

Sequencing Primer
(F):5'- CAAGAGTAAGAAGTATCACAGAGCTC -3'
(R):5'- AGGGATTTACACCATCTGCATTCATC -3'

Posted On

2016-10-24