Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Nol12'

527040

Institutional Source

Beutler Lab

Gene Symbol

Nol12

Ensembl Gene

ENSMUSG00000033099

Gene Name

nucleolar protein 12

Synonyms

C78541, Nop25

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78934933-78943638 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78940080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 133 (D133E)

Ref Sequence

ENSEMBL: ENSMUSP00000116103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123013] [ENSMUST00000138880] [ENSMUST00000145157] [ENSMUST00000149580]

AlphaFold

Q8BG17

Predicted Effect

unknown
Transcript: ENSMUST00000041164
AA Change: W84R

SMART Domains

Protein: ENSMUSP00000042908
Gene: ENSMUSG00000033099
AA Change: W84R

Domain	Start	End	E-Value	Type
Pfam:Nop25	4	170	8.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123013

SMART Domains

Protein: ENSMUSP00000121877
Gene: ENSMUSG00000033099

Domain	Start	End	E-Value	Type
Pfam:Nop25	45	83	5.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138880
AA Change: D133E

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116103
Gene: ENSMUSG00000033099
AA Change: D133E

Domain	Start	End	E-Value	Type
Pfam:Nop25	5	156	9.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145157

Predicted Effect

probably benign
Transcript: ENSMUST00000149580

SMART Domains

Protein: ENSMUSP00000115374
Gene: ENSMUSG00000033099

Domain	Start	End	E-Value	Type
Pfam:Nop25	4	140	7.1e-32	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably damaging	Het

Other mutations in Nol12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Nol12	APN	15	78937174	missense	probably damaging	1.00
IGL02690:Nol12	APN	15	78937174	missense	probably damaging	1.00
IGL02972:Nol12	APN	15	78940599	missense	probably damaging	1.00
R1434:Nol12	UTSW	15	78937953	splice site	probably benign
R1836:Nol12	UTSW	15	78937889	missense	probably damaging	1.00
R2484:Nol12	UTSW	15	78940517	intron	probably benign
R4302:Nol12	UTSW	15	78940141	missense	probably damaging	1.00
R5820:Nol12	UTSW	15	78940480	missense	probably benign	0.08
R6339:Nol12	UTSW	15	78940833	unclassified	probably benign
R7727:Nol12	UTSW	15	78940593	nonsense	probably null
R8004:Nol12	UTSW	15	78940517	missense	probably damaging	0.99
R8389:Nol12	UTSW	15	78935068	missense	probably damaging	1.00
R9006:Nol12	UTSW	15	78940091	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGTCATTCTGGTTCTCACACAG -3'
(R):5'- TTGGAAGCTGCAACAAGCTC -3'

Sequencing Primer
(F):5'- ATGGAGAAGTCCTGCTTGCTCAC -3'
(R):5'- ACATGTCACACTCGGCCTG -3'

Posted On

2018-07-23