Mutagenetix > Incidental Mutation

Incidental Mutation 'R5991:Nol11'

482024

Institutional Source

Beutler Lab

Gene Symbol

Nol11

Ensembl Gene

ENSMUSG00000018433

Gene Name

nucleolar protein 11

Synonyms

1500002M01Rik

MMRRC Submission

044171-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R5991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107057489-107080207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107061971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 612 (T612A)

Ref Sequence

ENSEMBL: ENSMUSP00000102368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018577] [ENSMUST00000106757]

AlphaFold

Q8BJW5

Predicted Effect

probably benign
Transcript: ENSMUST00000018577
AA Change: T632A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: T632A

Domain	Start	End	E-Value	Type
SCOP:d1jmxb_	32	176	3e-3	SMART
Pfam:NUC205	200	243	3.7e-26	PFAM
low complexity region	619	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106757
AA Change: T612A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: T612A

Domain	Start	End	E-Value	Type
SCOP:d1jmxb_	32	176	3e-3	SMART
Pfam:NUC205	200	243	7.3e-29	PFAM
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129501

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,777,032 (GRCm39)	R683Q	probably damaging	Het
Adam8	T	A	7: 139,570,200 (GRCm39)	H69L	probably damaging	Het
Bbs2	G	T	8: 94,824,914 (GRCm39)	R23S	probably benign	Het
Bod1l	A	T	5: 41,974,206 (GRCm39)	C2369*	probably null	Het
Capn11	G	T	17: 45,970,278 (GRCm39)		probably null	Het
Carmil2	A	G	8: 106,418,023 (GRCm39)	Q679R	probably null	Het
Cep120	T	C	18: 53,854,870 (GRCm39)	I422V	probably benign	Het
Cnot7	A	C	8: 40,948,696 (GRCm39)		probably null	Het
Col1a1	T	C	11: 94,828,745 (GRCm39)	V29A	unknown	Het
Dnttip1	A	T	2: 164,596,100 (GRCm39)	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,857,188 (GRCm39)	V497A	probably benign	Het
Ep300	A	G	15: 81,532,667 (GRCm39)	D1635G	unknown	Het
Ercc5	T	A	1: 44,219,990 (GRCm39)	C1087*	probably null	Het
Fap	A	T	2: 62,348,865 (GRCm39)	M517K	probably damaging	Het
Focad	C	A	4: 88,319,256 (GRCm39)	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,820,812 (GRCm39)	P5515L	probably benign	Het
Gpr158	T	C	2: 21,373,319 (GRCm39)	Y85H	probably damaging	Het
Hc	A	G	2: 34,896,117 (GRCm39)	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,268,328 (GRCm39)	M546I	probably damaging	Het
Jup	T	C	11: 100,270,395 (GRCm39)	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,008,741 (GRCm39)	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,385,209 (GRCm39)	E83G	probably damaging	Het
Lyg2	C	T	1: 37,954,800 (GRCm39)		probably null	Het
Mtmr11	T	A	3: 96,075,905 (GRCm39)		probably null	Het
Myct1	A	T	10: 5,554,426 (GRCm39)	R98*	probably null	Het
Or2l5	T	C	16: 19,333,507 (GRCm39)	N293S	probably damaging	Het
Or4b1d	T	A	2: 89,968,578 (GRCm39)	K302*	probably null	Het
Or4c113	C	T	2: 88,885,126 (GRCm39)	V215I	probably benign	Het
Or4f61	C	T	2: 111,922,960 (GRCm39)	V29M	probably benign	Het
Or5m9	A	G	2: 85,877,254 (GRCm39)	I143V	probably benign	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,434,561 (GRCm39)	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,431,867 (GRCm39)	R212W	probably benign	Het
Plin3	T	C	17: 56,593,576 (GRCm39)	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,526,820 (GRCm39)	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr1	G	T	7: 28,804,035 (GRCm39)	N584K	probably damaging	Het
Scmh1	T	C	4: 120,379,817 (GRCm39)	V544A	probably benign	Het
Sdk2	G	A	11: 113,834,080 (GRCm39)	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,443,790 (GRCm39)	L270H	probably damaging	Het
Shoc2	T	A	19: 53,991,480 (GRCm39)	N248K	probably damaging	Het
Sirpd	G	T	3: 15,385,818 (GRCm39)	A28E	probably benign	Het
Slc25a4	T	C	8: 46,662,373 (GRCm39)	Y95C	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,413 (GRCm39)	N403S	possibly damaging	Het
Spink10	T	A	18: 62,790,956 (GRCm39)	W7R	probably null	Het
Ssrp1	A	G	2: 84,872,640 (GRCm39)	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,428,043 (GRCm39)		probably benign	Het
Tead3	A	T	17: 28,553,352 (GRCm39)		probably null	Het
Timd4	A	G	11: 46,734,030 (GRCm39)	*344W	probably null	Het
Tmem181a	T	A	17: 6,339,312 (GRCm39)	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733 (GRCm39)	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,136,640 (GRCm39)	V202L	probably damaging	Het
Vmn1r80	A	G	7: 11,927,423 (GRCm39)	T178A	probably benign	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zmym6	T	A	4: 127,002,266 (GRCm39)		probably null	Het

Other mutations in Nol11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Nol11	APN	11	107,064,286 (GRCm39)	missense	probably benign
IGL01656:Nol11	APN	11	107,079,998 (GRCm39)	missense	probably benign	0.00
IGL01687:Nol11	APN	11	107,077,695 (GRCm39)	missense	probably damaging	0.97
IGL02179:Nol11	APN	11	107,080,082 (GRCm39)	start codon destroyed	probably null	1.00
IGL02538:Nol11	APN	11	107,064,199 (GRCm39)	missense	probably benign	0.02
IGL03395:Nol11	APN	11	107,066,548 (GRCm39)	missense	probably benign	0.06
R0526:Nol11	UTSW	11	107,075,597 (GRCm39)	nonsense	probably null
R1734:Nol11	UTSW	11	107,066,449 (GRCm39)	missense	possibly damaging	0.80
R2143:Nol11	UTSW	11	107,071,881 (GRCm39)	missense	probably benign	0.03
R2385:Nol11	UTSW	11	107,080,032 (GRCm39)	missense	probably benign	0.40
R3036:Nol11	UTSW	11	107,064,070 (GRCm39)	missense	possibly damaging	0.87
R3522:Nol11	UTSW	11	107,064,454 (GRCm39)	missense	possibly damaging	0.94
R3895:Nol11	UTSW	11	107,059,173 (GRCm39)	missense	probably damaging	1.00
R4404:Nol11	UTSW	11	107,064,551 (GRCm39)	missense	probably damaging	1.00
R4664:Nol11	UTSW	11	107,071,826 (GRCm39)	missense	possibly damaging	0.89
R4705:Nol11	UTSW	11	107,075,544 (GRCm39)	intron	probably benign
R5704:Nol11	UTSW	11	107,064,195 (GRCm39)	missense	probably benign	0.43
R6221:Nol11	UTSW	11	107,062,442 (GRCm39)	missense	possibly damaging	0.50
R6222:Nol11	UTSW	11	107,062,442 (GRCm39)	missense	possibly damaging	0.50
R6223:Nol11	UTSW	11	107,062,442 (GRCm39)	missense	possibly damaging	0.50
R6285:Nol11	UTSW	11	107,071,860 (GRCm39)	missense	probably benign	0.01
R6467:Nol11	UTSW	11	107,071,912 (GRCm39)	missense	possibly damaging	0.95
R7080:Nol11	UTSW	11	107,070,878 (GRCm39)	missense	probably damaging	1.00
R7679:Nol11	UTSW	11	107,064,142 (GRCm39)	missense	probably benign	0.00
R7767:Nol11	UTSW	11	107,069,908 (GRCm39)	missense	possibly damaging	0.67
R8831:Nol11	UTSW	11	107,067,662 (GRCm39)	missense	probably benign
R9063:Nol11	UTSW	11	107,069,857 (GRCm39)	missense	possibly damaging	0.62
R9063:Nol11	UTSW	11	107,064,240 (GRCm39)	missense	probably benign	0.04
R9329:Nol11	UTSW	11	107,071,765 (GRCm39)	missense	probably damaging	1.00
R9378:Nol11	UTSW	11	107,064,505 (GRCm39)	missense	probably benign	0.29
R9473:Nol11	UTSW	11	107,075,581 (GRCm39)	missense	probably null	0.81
R9515:Nol11	UTSW	11	107,064,278 (GRCm39)	missense	possibly damaging	0.76
R9771:Nol11	UTSW	11	107,069,914 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCAGATATCCATCCACTGATG -3'
(R):5'- TGAAACGAAGCTTCTGTCAGG -3'

Sequencing Primer
(F):5'- TCCACTGATGAGAGAAGCCCTC -3'
(R):5'- AAACGAAGCTTCTGTCAGGTTTGC -3'

Posted On

2017-06-26