Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03165:Utp14b'

411597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Utp14b

Ensembl Gene

ENSMUSG00000079470

Gene Name

UTP14B small subunit processome component

Synonyms

4932411L21Rik, jsd

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

78658038-78671512 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78664520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 45 (D45G)

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: D45G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: D45G

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: D45G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: D45G

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389	Y519F	probably benign	Het
C4b	A	G	17: 34,739,955	F500S	probably benign	Het
Cacng2	A	T	15: 77,995,663	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232		probably benign	Het
Ctnna3	A	G	10: 64,945,941	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872		probably null	Het
Flg2	C	T	3: 93,214,611	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912	E3513G	probably damaging	Het
Hpca	A	T	4: 129,118,590	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305		probably benign	Het
Kdm7a	C	A	6: 39,170,914		probably benign	Het
Olfr1040	A	C	2: 86,146,068	L222R	possibly damaging	Het
Olfr382	A	T	11: 73,516,884	L105*	probably null	Het
Olfr619	T	C	7: 103,604,011	I119T	probably damaging	Het
Pa2g4	A	T	10: 128,559,060		probably null	Het
Pdlim3	T	A	8: 45,918,998	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polk	T	A	13: 96,516,688	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,247,281		probably benign	Het
Rbm12b1	A	G	4: 12,145,845	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168	D521E	probably damaging	Het
Sntg1	A	T	1: 8,445,104	C402S	probably damaging	Het
Spg7	T	C	8: 123,080,812		probably null	Het
Stk31	G	A	6: 49,445,264	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304	L775S	probably damaging	Het

Other mutations in Utp14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Utp14b	APN	1	78664545	missense	probably damaging	1.00
IGL01837:Utp14b	APN	1	78664919	missense	probably damaging	1.00
IGL02895:Utp14b	APN	1	78664607	missense	possibly damaging	0.61
IGL03210:Utp14b	APN	1	78665551	missense	probably benign	0.02
R0662:Utp14b	UTSW	1	78664999	missense	probably damaging	1.00
R0671:Utp14b	UTSW	1	78664735	missense	probably benign	0.00
R0736:Utp14b	UTSW	1	78665272	missense	probably damaging	1.00
R1180:Utp14b	UTSW	1	78665445	missense	probably damaging	1.00
R1430:Utp14b	UTSW	1	78666394	missense	probably benign	0.25
R1448:Utp14b	UTSW	1	78665445	missense	probably damaging	1.00
R1641:Utp14b	UTSW	1	78665939	missense	probably benign	0.08
R1867:Utp14b	UTSW	1	78665431	missense	probably damaging	1.00
R3054:Utp14b	UTSW	1	78664725	missense	possibly damaging	0.91
R3055:Utp14b	UTSW	1	78664725	missense	possibly damaging	0.91
R3056:Utp14b	UTSW	1	78664725	missense	possibly damaging	0.91
R3426:Utp14b	UTSW	1	78665339	missense	probably damaging	1.00
R3744:Utp14b	UTSW	1	78665256	missense	probably benign	0.03
R4204:Utp14b	UTSW	1	78664822	missense	probably benign	0.12
R5570:Utp14b	UTSW	1	78665401	missense	probably damaging	1.00
R5574:Utp14b	UTSW	1	78666409	missense	probably damaging	1.00
R5958:Utp14b	UTSW	1	78664942	nonsense	probably null
R5958:Utp14b	UTSW	1	78664943	missense	probably damaging	1.00
R6173:Utp14b	UTSW	1	78665837	missense	probably benign	0.03
R6173:Utp14b	UTSW	1	78665840	missense	probably benign	0.00
R7258:Utp14b	UTSW	1	78664974	missense	probably benign	0.30
R7784:Utp14b	UTSW	1	78664943	missense	probably damaging	0.96
R8697:Utp14b	UTSW	1	78666527	missense	probably benign
R8983:Utp14b	UTSW	1	78665286	missense	probably benign	0.03
R9119:Utp14b	UTSW	1	78665308	missense	probably damaging	0.98
R9574:Utp14b	UTSW	1	78665765	missense	not run

Posted On

2016-08-02