Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Knop1'

332099

Institutional Source

Beutler Lab

Gene Symbol

Knop1

Ensembl Gene

ENSMUSG00000030980

Gene Name

lysine rich nucleolar protein 1

Synonyms

2310008H09Rik, Tsg118

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2872 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118441440-118454907 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 118455186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102157 (fasta)

Gene Model

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

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 null
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 null
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

probably benign
Transcript: ENSMUST00000152136

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

noncoding transcript
Transcript: ENSMUST00000153518

Predicted Effect

silent
Transcript: ENSMUST00000208658

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

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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'- TTGCTGTAGAAACCGCGTCC -3'
(R):5'- CAACTCTCTGACCGGGTTTC -3'

Sequencing Primer
(F):5'- TAGAAACCGCGTCCATGGC -3'
(R):5'- ACCGGGTTTCCTTCTGCGAG -3'

Posted On

2015-08-04