Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Utp14b'

599418

Institutional Source

Beutler Lab

Gene Symbol

Utp14b

Ensembl Gene

ENSMUSG00000079470

Gene Name

UTP14B small subunit processome component

Synonyms

4932411L21Rik, jsd

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78658038-78671512 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78664943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 186 (K186R)

Ref Sequence

ENSEMBL: ENSMUSP00000052149 (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: K186R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: K186R

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: K186R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: K186R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828 (GRCm38)		probably null	Het
3425401B19Rik	A	T	14: 32,659,840 (GRCm38)	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417 (GRCm38)	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411 (GRCm38)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989 (GRCm38)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882 (GRCm38)	W653*	probably null	Het
Akap13	T	A	7: 75,610,328 (GRCm38)	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474 (GRCm38)		probably null	Het
Cacna1d	T	A	14: 30,123,439 (GRCm38)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218 (GRCm38)	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040 (GRCm38)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396 (GRCm38)		probably null	Het
Ddx6	T	C	9: 44,630,142 (GRCm38)		probably null	Het
Epb42	T	G	2: 121,034,435 (GRCm38)	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587 (GRCm38)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122 (GRCm38)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499 (GRCm38)	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594 (GRCm38)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119 (GRCm38)	D355N		Het
Ffar2	T	C	7: 30,819,258 (GRCm38)	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932 (GRCm38)		probably null	Het
Ganc	G	A	2: 120,436,668 (GRCm38)	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193 (GRCm38)		probably null	Het
Ifi207	T	A	1: 173,730,132 (GRCm38)	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841 (GRCm38)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147 (GRCm38)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692 (GRCm38)		probably null	Het
Krt39	A	T	11: 99,521,031 (GRCm38)	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495 (GRCm38)	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780 (GRCm38)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413 (GRCm38)		probably null	Het
Med23	C	T	10: 24,902,448 (GRCm38)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591 (GRCm38)		probably null	Het
Mtmr6	A	G	14: 60,300,445 (GRCm38)	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340 (GRCm38)	V683M		Het
Neb	T	A	2: 52,235,488 (GRCm38)	M506L		Het
Olfr103	T	C	17: 37,336,578 (GRCm38)	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055 (GRCm38)	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193 (GRCm38)	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388 (GRCm38)	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863 (GRCm38)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532 (GRCm38)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082 (GRCm38)	T350A		Het
Rbp3	A	T	14: 33,954,158 (GRCm38)	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658 (GRCm38)	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048 (GRCm38)	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695 (GRCm38)	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444 (GRCm38)	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008 (GRCm38)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225 (GRCm38)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776 (GRCm38)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388 (GRCm38)	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252 (GRCm38)	R68G	unknown	Het
Spta1	G	A	1: 174,202,451 (GRCm38)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550 (GRCm38)	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833 (GRCm38)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103 (GRCm38)	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994 (GRCm38)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701 (GRCm38)	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305 (GRCm38)	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157 (GRCm38)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592 (GRCm38)	T1318S	possibly damaging	Het
Vars2	C	T	17: 35,658,158 (GRCm38)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het
Zfp775	A	G	6: 48,619,249 (GRCm38)	Q19R	possibly damaging	Het

Other mutations in Utp14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Utp14b	APN	1	78,664,545 (GRCm38)	missense	probably damaging	1.00
IGL01837:Utp14b	APN	1	78,664,919 (GRCm38)	missense	probably damaging	1.00
IGL02895:Utp14b	APN	1	78,664,607 (GRCm38)	missense	possibly damaging	0.61
IGL03165:Utp14b	APN	1	78,664,520 (GRCm38)	missense	probably damaging	0.97
IGL03210:Utp14b	APN	1	78,665,551 (GRCm38)	missense	probably benign	0.02
R0662:Utp14b	UTSW	1	78,664,999 (GRCm38)	missense	probably damaging	1.00
R0671:Utp14b	UTSW	1	78,664,735 (GRCm38)	missense	probably benign	0.00
R0736:Utp14b	UTSW	1	78,665,272 (GRCm38)	missense	probably damaging	1.00
R1180:Utp14b	UTSW	1	78,665,445 (GRCm38)	missense	probably damaging	1.00
R1430:Utp14b	UTSW	1	78,666,394 (GRCm38)	missense	probably benign	0.25
R1448:Utp14b	UTSW	1	78,665,445 (GRCm38)	missense	probably damaging	1.00
R1641:Utp14b	UTSW	1	78,665,939 (GRCm38)	missense	probably benign	0.08
R1867:Utp14b	UTSW	1	78,665,431 (GRCm38)	missense	probably damaging	1.00
R3054:Utp14b	UTSW	1	78,664,725 (GRCm38)	missense	possibly damaging	0.91
R3055:Utp14b	UTSW	1	78,664,725 (GRCm38)	missense	possibly damaging	0.91
R3056:Utp14b	UTSW	1	78,664,725 (GRCm38)	missense	possibly damaging	0.91
R3426:Utp14b	UTSW	1	78,665,339 (GRCm38)	missense	probably damaging	1.00
R3744:Utp14b	UTSW	1	78,665,256 (GRCm38)	missense	probably benign	0.03
R4204:Utp14b	UTSW	1	78,664,822 (GRCm38)	missense	probably benign	0.12
R5570:Utp14b	UTSW	1	78,665,401 (GRCm38)	missense	probably damaging	1.00
R5574:Utp14b	UTSW	1	78,666,409 (GRCm38)	missense	probably damaging	1.00
R5958:Utp14b	UTSW	1	78,664,943 (GRCm38)	missense	probably damaging	1.00
R5958:Utp14b	UTSW	1	78,664,942 (GRCm38)	nonsense	probably null
R6173:Utp14b	UTSW	1	78,665,840 (GRCm38)	missense	probably benign	0.00
R6173:Utp14b	UTSW	1	78,665,837 (GRCm38)	missense	probably benign	0.03
R7258:Utp14b	UTSW	1	78,664,974 (GRCm38)	missense	probably benign	0.30
R8697:Utp14b	UTSW	1	78,666,527 (GRCm38)	missense	probably benign
R8983:Utp14b	UTSW	1	78,665,286 (GRCm38)	missense	probably benign	0.03
R9119:Utp14b	UTSW	1	78,665,308 (GRCm38)	missense	probably damaging	0.98
R9574:Utp14b	UTSW	1	78,665,765 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCTGGTCCTTTCCGATTTG -3'
(R):5'- TGGCTTCTTCCAGGCTCATG -3'

Sequencing Primer
(F):5'- ACAGCATTATCTTCGGTGGC -3'
(R):5'- AGGCTCATGGCTCTGATGGAG -3'

Posted On

2019-11-26