Mutagenetix > Incidental Mutation

Incidental Mutation 'R0662:Utp14b'

61871

Institutional Source

Beutler Lab

Gene Symbol

Utp14b

Ensembl Gene

ENSMUSG00000079470

Gene Name

UTP14B small subunit processome component

Synonyms

4932411L21Rik, jsd

MMRRC Submission

038847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78635600-78645305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78642716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 205 (T205A)

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: T205A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: T205A

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: T205A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: T205A

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: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,898,338 (GRCm39)	S241P	probably benign	Het
Ankrd53	G	T	6: 83,740,625 (GRCm39)	V83L	probably damaging	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
C4b	G	A	17: 34,949,862 (GRCm39)	R1441C	probably damaging	Het
Cacng3	T	C	7: 122,367,582 (GRCm39)	I154T	probably damaging	Het
Cand2	A	G	6: 115,764,171 (GRCm39)	D315G	probably benign	Het
Celsr2	A	T	3: 108,305,836 (GRCm39)	S2089R	probably damaging	Het
Chd9	A	C	8: 91,704,304 (GRCm39)	K247Q	probably damaging	Het
Chi3l1	A	C	1: 134,116,311 (GRCm39)	S263R	probably damaging	Het
Clec12b	A	C	6: 129,353,200 (GRCm39)	C262W	probably damaging	Het
Cpsf7	T	C	19: 10,503,372 (GRCm39)	M1T	probably null	Het
Cul3	T	C	1: 80,249,282 (GRCm39)	D597G	probably damaging	Het
Dcaf11	T	C	14: 55,802,964 (GRCm39)	V251A	possibly damaging	Het
Dennd2b	G	T	7: 109,156,633 (GRCm39)	P39Q	probably damaging	Het
Eno2	A	T	6: 124,740,774 (GRCm39)	F218I	probably damaging	Het
Frmd6	A	T	12: 70,946,218 (GRCm39)	R549*	probably null	Het
Fyb2	G	A	4: 104,852,895 (GRCm39)	S461N	possibly damaging	Het
Gm5709	A	T	3: 59,514,164 (GRCm39)		noncoding transcript	Het
Hormad1	T	C	3: 95,482,910 (GRCm39)	I132T	probably benign	Het
Itga7	G	T	10: 128,789,400 (GRCm39)	R981L	probably damaging	Het
Itgbl1	T	A	14: 124,065,306 (GRCm39)	N153K	probably damaging	Het
Itih1	T	C	14: 30,655,317 (GRCm39)	E626G	possibly damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcna2	A	T	3: 107,012,717 (GRCm39)	T433S	probably benign	Het
Map4k5	A	G	12: 69,859,927 (GRCm39)	V673A	probably damaging	Het
Mmp27	T	A	9: 7,577,651 (GRCm39)	V281E	probably benign	Het
Nr2c1	A	T	10: 94,026,600 (GRCm39)	I492F	probably damaging	Het
Or14c39	A	G	7: 86,343,838 (GRCm39)	Y58C	possibly damaging	Het
Or2ag19	A	T	7: 106,443,856 (GRCm39)	I13F	probably benign	Het
Or2r3	C	T	6: 42,448,708 (GRCm39)	V135M	possibly damaging	Het
Or2y3	A	G	17: 38,393,824 (GRCm39)	I15T	probably benign	Het
Or7d10	G	C	9: 19,831,796 (GRCm39)	C97S	probably damaging	Het
Or7e170	T	C	9: 19,795,248 (GRCm39)	M118V	probably benign	Het
Or8b47	T	A	9: 38,435,322 (GRCm39)	M98K	probably damaging	Het
Pank3	T	C	11: 35,669,477 (GRCm39)	M237T	probably damaging	Het
Plekhh1	A	G	12: 79,125,767 (GRCm39)	T1268A	probably benign	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Rhcg	C	T	7: 79,249,477 (GRCm39)	V310M	probably damaging	Het
Ryr1	A	T	7: 28,799,614 (GRCm39)	D906E	probably damaging	Het
Sez6l	A	T	5: 112,621,288 (GRCm39)	L262Q	probably damaging	Het
Shprh	G	A	10: 11,062,591 (GRCm39)	V1233I	probably damaging	Het
Slc3a1	A	G	17: 85,344,635 (GRCm39)	E267G	possibly damaging	Het
Slc5a5	T	A	8: 71,336,519 (GRCm39)	T616S	probably benign	Het
Syne3	T	G	12: 104,927,769 (GRCm39)	E318A	probably benign	Het
Tecpr2	A	G	12: 110,862,662 (GRCm39)	T25A	probably benign	Het
Ubxn1	T	A	19: 8,852,561 (GRCm39)		probably null	Het
Unc5b	C	A	10: 60,608,362 (GRCm39)	R616L	possibly damaging	Het
Ush2a	A	G	1: 188,083,290 (GRCm39)	T278A	probably benign	Het
Vmn1r219	T	C	13: 23,347,623 (GRCm39)	S271P	possibly damaging	Het
Vmn2r76	C	T	7: 85,879,578 (GRCm39)	V241M	probably benign	Het
Zbtb24	G	A	10: 41,338,275 (GRCm39)	G429D	probably damaging	Het
Zdhhc2	T	C	8: 40,900,139 (GRCm39)	S68P	probably damaging	Het
Zfp719	G	A	7: 43,233,678 (GRCm39)	M32I	possibly damaging	Het
Zfp975	T	C	7: 42,311,950 (GRCm39)	N221S	probably benign	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
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
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'- CCCTTAACAAAGAAGAGGCTGACCG -3'
(R):5'- AAGGCTCATCCGTTCTGTCATTCTG -3'

Sequencing Primer
(F):5'- ACCGAGCCCTCAGGGAAG -3'
(R):5'- AATGCAGCATTTGGGCAGTC -3'

Posted On

2013-07-30