Mutagenetix > Incidental Mutation

Incidental Mutation 'R6173:Utp14b'

489113

Institutional Source

Beutler Lab

Gene Symbol

Utp14b

Ensembl Gene

ENSMUSG00000079470

Gene Name

UTP14B small subunit processome component

Synonyms

4932411L21Rik, jsd

MMRRC Submission

044316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6173 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78635600-78645305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78643554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 484 (D484V)

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 benign
Transcript: ENSMUST00000053760
AA Change: D484V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: D484V

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 benign
Transcript: ENSMUST00000151622
AA Change: D484V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: D484V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (52/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	T	C	3: 126,846,395 (GRCm39)	D219G	probably damaging	Het
Arap2	A	T	5: 62,906,965 (GRCm39)	I18N	probably damaging	Het
Baz1b	T	C	5: 135,271,361 (GRCm39)	S1315P	probably benign	Het
Bbs7	A	T	3: 36,646,523 (GRCm39)	C432*	probably null	Het
Bend3	A	G	10: 43,385,864 (GRCm39)	T86A	probably benign	Het
Cadm2	C	T	16: 66,679,729 (GRCm39)	V35I	probably benign	Het
Ch25h	A	G	19: 34,451,896 (GRCm39)	S211P	probably damaging	Het
Chd5	A	T	4: 152,463,848 (GRCm39)	H1476L	probably damaging	Het
Chia1	T	C	3: 106,036,338 (GRCm39)		probably null	Het
Clpx	C	A	9: 65,209,161 (GRCm39)	S92*	probably null	Het
Dazl	A	T	17: 50,594,599 (GRCm39)	M152K	probably benign	Het
Dnah17	A	G	11: 117,930,772 (GRCm39)	S3748P	probably damaging	Het
Dock2	T	C	11: 34,212,388 (GRCm39)	K1251R	probably null	Het
Esr1	T	C	10: 4,696,760 (GRCm39)	V203A	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,588 (GRCm39)	I262T	probably damaging	Het
Foxp1	G	A	6: 98,992,471 (GRCm39)	Q41*	probably null	Het
Foxp1	C	A	6: 98,992,475 (GRCm39)		probably null	Het
Fshb	T	C	2: 106,887,638 (GRCm39)	E127G	possibly damaging	Het
Galk2	A	G	2: 125,701,137 (GRCm39)		probably benign	Het
Gid4	A	G	11: 60,323,241 (GRCm39)	D111G	probably damaging	Het
Gm14412	G	A	2: 177,006,330 (GRCm39)	P522S	probably damaging	Het
Iqank1	A	G	15: 75,917,237 (GRCm39)	E290G	probably damaging	Het
Mfap4	A	G	11: 61,376,245 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,845,039 (GRCm39)	V224A	probably benign	Het
Mocos	A	T	18: 24,809,639 (GRCm39)	Y414F	probably benign	Het
Mrto4	T	C	4: 139,077,755 (GRCm39)	I27V	probably benign	Het
Muc4	A	G	16: 32,554,958 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,840,752 (GRCm39)	I534N	probably damaging	Het
Mup20	A	T	4: 61,972,267 (GRCm39)	L7Q	unknown	Het
Nlrp2	T	C	7: 5,340,808 (GRCm39)	E2G	probably damaging	Het
Or11g1	A	G	14: 50,651,654 (GRCm39)	I218V	possibly damaging	Het
Or12k7	A	G	2: 36,959,091 (GRCm39)	Y258C	possibly damaging	Het
Or2y16	T	C	11: 49,335,299 (GRCm39)	V207A	probably benign	Het
Or6z5	C	T	7: 6,477,835 (GRCm39)	A242V	probably damaging	Het
Parn	T	C	16: 13,469,675 (GRCm39)	T209A	possibly damaging	Het
Psip1	T	A	4: 83,391,286 (GRCm39)		probably null	Het
Ptprc	A	C	1: 137,995,628 (GRCm39)	C1157G	probably damaging	Het
Rad17	A	C	13: 100,759,389 (GRCm39)	V546G	probably benign	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Safb	A	G	17: 56,904,798 (GRCm39)	E124G	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Skint5	T	C	4: 113,392,907 (GRCm39)	T1242A	unknown	Het
Slc13a5	C	T	11: 72,144,023 (GRCm39)	E352K	probably benign	Het
Sohlh2	G	T	3: 55,104,419 (GRCm39)	V263F	probably benign	Het
Strn	A	G	17: 79,008,298 (GRCm39)	Y107H	probably damaging	Het
Tbx15	G	T	3: 99,161,203 (GRCm39)	E3*	probably null	Het
Tespa1	A	G	10: 130,183,172 (GRCm39)	D39G	probably benign	Het
Trp73	A	T	4: 154,188,798 (GRCm39)	D54E	probably damaging	Het
Ttll5	A	T	12: 85,980,151 (GRCm39)	S912C	probably damaging	Het
Vmn2r29	T	C	7: 7,234,369 (GRCm39)	E839G	probably benign	Het
Vmn2r6	G	C	3: 64,467,176 (GRCm39)	P108A	probably damaging	Het
Vps8	T	G	16: 21,314,682 (GRCm39)		probably null	Het
Zfp36l1	A	T	12: 80,156,320 (GRCm39)		probably null	Het
Zfp998	T	A	13: 66,579,608 (GRCm39)	T292S	probably benign	Het
Zp3r	A	T	1: 130,519,305 (GRCm39)		probably null	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
R5570:Utp14b	UTSW	1	78,643,118 (GRCm39)	missense	probably damaging	1.00
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
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'- AGATGCCTGAGTTTGTGGCC -3'
(R):5'- GGTGAGTGGCTTCATCTCCTTC -3'

Sequencing Primer
(F):5'- GCCCATGTGTCTTCTGAGAG -3'
(R):5'- GAGTGGCTTCATCTCCTTCCAATC -3'

Posted On

2017-10-10