Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Knop1'

22621

Institutional Source

Beutler Lab

Gene Symbol

Knop1

Ensembl Gene

ENSMUSG00000030980

Gene Name

lysine rich nucleolar protein 1

Synonyms

2310008H09Rik, Tsg118

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0147 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

118441440-118454907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118445061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 301 (R301L)

Ref Sequence

ENSEMBL: ENSMUSP00000102159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033280] [ENSMUST00000059390] [ENSMUST00000063607] [ENSMUST00000106549] [ENSMUST00000106550] [ENSMUST00000106552] [ENSMUST00000116280] [ENSMUST00000126792] [ENSMUST00000106553]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000033277
AA Change: R171L

SMART Domains

Protein: ENSMUSP00000033277
Gene: ENSMUSG00000030980
AA Change: R171L

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: ENSMUST00000033280

Predicted Effect

probably benign
Transcript: ENSMUST00000059390

SMART Domains

Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063607
AA Change: R353L

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
AA Change: R353L

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: ENSMUST00000106549
AA Change: R301L

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980
AA Change: R301L

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

unknown
Transcript: ENSMUST00000106550
AA Change: R515L

SMART Domains

Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: R515L

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: ENSMUST00000106552

SMART Domains

Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982

Domain	Start	End	E-Value	Type
low complexity region	47	76	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000116280
AA Change: R515L

SMART Domains

Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: R515L

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

unknown
Transcript: ENSMUST00000126792
AA Change: R330L

SMART Domains

Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980
AA Change: R330L

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

noncoding transcript
Transcript: ENSMUST00000175952

Predicted Effect

probably benign
Transcript: ENSMUST00000106553

SMART Domains

Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982

Domain	Start	End	E-Value	Type
low complexity region	47	76	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fam98c	T	A	7: 28,852,146 (GRCm39)	R340*	probably null	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,322,328 (GRCm39)	R594C	probably damaging	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,380,775 (GRCm39)		probably benign	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	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
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
R3001:Knop1	UTSW	7	118,451,672 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- AGGAAAATAGTCAGGACCCTCCACG -3'
(R):5'- AAGCATCTGTCCCCGTCATTCAGC -3'

Sequencing Primer
(F):5'- TTAAAATACTGTCACCCGGAGG -3'
(R):5'- GTCATTCAGCCGCCCTC -3'

Posted On

2013-04-16