Mutagenetix > Incidental Mutation

Incidental Mutation 'R3001:Knop1'

477343

Institutional Source

Beutler Lab

Gene Symbol

Knop1

Ensembl Gene

ENSMUSG00000030980

Gene Name

lysine rich nucleolar protein 1

Synonyms

2310008H09Rik, Tsg118

MMRRC Submission

040530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3001 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

118441440-118454907 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CTCTTCTTCTTCTTCTTCTTCTTC to CTCTTCTTCTTCTTCTTC at 118451672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063607] [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000106549] [ENSMUST00000106550] [ENSMUST00000116280] [ENSMUST00000208658] [ENSMUST00000126792] [ENSMUST00000152309] [ENSMUST00000152136]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033277

SMART Domains

Protein: ENSMUSP00000033277
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
low complexity region	173	186	N/A	INTRINSIC
low complexity region	204	218	N/A	INTRINSIC
low complexity region	243	256	N/A	INTRINSIC
low complexity region	293	304	N/A	INTRINSIC
low complexity region	314	329	N/A	INTRINSIC
low complexity region	340	350	N/A	INTRINSIC
internal_repeat_1	401	413	1.29e-7	PROSPERO
internal_repeat_1	417	429	1.29e-7	PROSPERO
Pfam:SMAP	435	509	1.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063607

SMART Domains

Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
low complexity region	173	186	N/A	INTRINSIC
internal_repeat_1	239	251	6.9e-7	PROSPERO
internal_repeat_1	255	267	6.9e-7	PROSPERO
Pfam:SMAP	273	347	3.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098087

SMART Domains

Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856

Domain	Start	End	E-Value	Type
low complexity region	111	120	N/A	INTRINSIC
IQ	219	241	7.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106547

SMART Domains

Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856

Domain	Start	End	E-Value	Type
low complexity region	108	117	N/A	INTRINSIC
IQ	216	238	7.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106549

SMART Domains

Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	71	83	N/A	INTRINSIC
low complexity region	121	134	N/A	INTRINSIC
internal_repeat_1	187	199	1.42e-6	PROSPERO
internal_repeat_1	203	215	1.42e-6	PROSPERO
Pfam:SMAP	221	295	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106550

SMART Domains

Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
low complexity region	173	186	N/A	INTRINSIC
internal_repeat_1	216	228	4.11e-7	PROSPERO
internal_repeat_1	232	244	4.11e-7	PROSPERO
Pfam:SMAP	250	324	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116280

SMART Domains

Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
low complexity region	173	186	N/A	INTRINSIC
low complexity region	204	218	N/A	INTRINSIC
low complexity region	243	256	N/A	INTRINSIC
low complexity region	293	304	N/A	INTRINSIC
low complexity region	314	329	N/A	INTRINSIC
low complexity region	340	350	N/A	INTRINSIC
internal_repeat_1	401	413	1.29e-7	PROSPERO
internal_repeat_1	417	429	1.29e-7	PROSPERO
Pfam:SMAP	436	509	7e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153518

Predicted Effect

probably benign
Transcript: ENSMUST00000208658

Predicted Effect

probably benign
Transcript: ENSMUST00000126792

SMART Domains

Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
low complexity region	173	186	N/A	INTRINSIC
internal_repeat_1	216	228	4.11e-7	PROSPERO
internal_repeat_1	232	244	4.11e-7	PROSPERO
Pfam:SMAP	251	324	1.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152309

SMART Domains

Protein: ENSMUSP00000117151
Gene: ENSMUSG00000030980

Domain	Start	End	E-Value	Type
low complexity region	71	83	N/A	INTRINSIC
low complexity region	121	134	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152136

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Krt71	C	T	15: 101,648,906 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sacm1l	T	C	9: 123,414,149 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Xpo7	A	G	14: 70,930,085 (GRCm39)		probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably damaging	Het

Other mutations in Knop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Knop1	APN	7	118,451,867 (GRCm39)	missense	probably benign	0.09
IGL00840:Knop1	APN	7	118,452,021 (GRCm39)	missense	probably damaging	0.96
IGL01484:Knop1	APN	7	118,452,032 (GRCm39)	missense	probably damaging	0.99
IGL01608:Knop1	APN	7	118,445,019 (GRCm39)	missense	probably benign	0.30
IGL03094:Knop1	APN	7	118,452,374 (GRCm39)	missense	possibly damaging	0.92
R0147:Knop1	UTSW	7	118,445,061 (GRCm39)	missense	probably benign	0.35
R0403:Knop1	UTSW	7	118,452,276 (GRCm39)	missense	probably damaging	0.99
R0421:Knop1	UTSW	7	118,454,852 (GRCm39)	missense	possibly damaging	0.53
R1483:Knop1	UTSW	7	118,452,273 (GRCm39)	missense	probably damaging	0.96
R1513:Knop1	UTSW	7	118,451,672 (GRCm39)	unclassified	probably benign
R1541:Knop1	UTSW	7	118,455,009 (GRCm39)	unclassified	probably benign
R2366:Knop1	UTSW	7	118,451,751 (GRCm39)	missense	possibly damaging	0.60
R2372:Knop1	UTSW	7	118,452,440 (GRCm39)	missense	probably damaging	1.00
R2872:Knop1	UTSW	7	118,455,186 (GRCm39)	critical splice donor site	probably null
R3002:Knop1	UTSW	7	118,451,672 (GRCm39)	unclassified	probably benign
R4723:Knop1	UTSW	7	118,455,087 (GRCm39)	unclassified	probably benign
R4916:Knop1	UTSW	7	118,445,299 (GRCm39)	missense	probably damaging	1.00
R5286:Knop1	UTSW	7	118,454,993 (GRCm39)	missense	probably damaging	0.99
R5326:Knop1	UTSW	7	118,452,495 (GRCm39)	missense	possibly damaging	0.91
R5733:Knop1	UTSW	7	118,445,305 (GRCm39)	missense	probably damaging	0.96
R5950:Knop1	UTSW	7	118,452,557 (GRCm39)	missense	probably damaging	1.00
R6741:Knop1	UTSW	7	118,445,061 (GRCm39)	missense	possibly damaging	0.79
R7654:Knop1	UTSW	7	118,445,032 (GRCm39)	missense	unknown
R7850:Knop1	UTSW	7	118,449,860 (GRCm39)	missense	unknown
R8192:Knop1	UTSW	7	118,452,369 (GRCm39)	missense
R8857:Knop1	UTSW	7	118,451,949 (GRCm39)	missense
R9482:Knop1	UTSW	7	118,447,710 (GRCm39)	missense	unknown
R9584:Knop1	UTSW	7	118,447,709 (GRCm39)	missense	unknown
R9728:Knop1	UTSW	7	118,451,840 (GRCm39)	missense

Predicted Primers

Posted On

2017-05-15