Mutagenetix > Incidental Mutation

Incidental Mutation 'R5326:Knop1'

421964

Institutional Source

Beutler Lab

Gene Symbol

Knop1

Ensembl Gene

ENSMUSG00000030980

Gene Name

lysine rich nucleolar protein 1

Synonyms

2310008H09Rik, Tsg118

MMRRC Submission

042909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118441440-118454907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118452495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 23 (K23E)

Ref Sequence

ENSEMBL: ENSMUSP00000117151 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000063607
AA Change: K75E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
AA Change: K75E

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

possibly damaging
Transcript: ENSMUST00000106549
AA Change: K23E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980
AA Change: K23E

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
AA Change: K75E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: K75E

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
AA Change: K75E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: K75E

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

possibly damaging
Transcript: ENSMUST00000152309
AA Change: K23E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117151
Gene: ENSMUSG00000030980
AA Change: K23E

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: ENSMUST00000126792
AA Change: K75E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980
AA Change: K75E

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

probably benign
Transcript: ENSMUST00000208658

Predicted Effect

probably benign
Transcript: ENSMUST00000152136

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,336 (GRCm39)	T127A	probably damaging	Het
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Actl6b	T	C	5: 137,565,313 (GRCm39)	S366P	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Adgrf5	T	A	17: 43,750,965 (GRCm39)	I510N	probably damaging	Het
Adra2a	A	G	19: 54,035,112 (GRCm39)	Y156C	probably damaging	Het
Angpt4	T	C	2: 151,767,464 (GRCm39)		probably null	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Brd3	A	G	2: 27,340,556 (GRCm39)	L551P	probably benign	Het
Calb2	C	T	8: 110,883,610 (GRCm39)	G38D	possibly damaging	Het
Cand1	G	A	10: 119,047,933 (GRCm39)	A519V	probably benign	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Cog6	T	A	3: 52,921,237 (GRCm39)	Q123L	probably null	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Depdc1a	T	C	3: 159,232,286 (GRCm39)	V679A	probably damaging	Het
Dyrk1a	A	G	16: 94,487,440 (GRCm39)	D512G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Frs2	T	C	10: 116,913,468 (GRCm39)	S121G	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Ggt1	T	C	10: 75,421,540 (GRCm39)		probably null	Het
Gigyf2	T	C	1: 87,352,860 (GRCm39)		probably benign	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm9476	T	A	10: 100,142,996 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,703,127 (GRCm39)	N102K	possibly damaging	Het
Gml	T	C	15: 74,688,299 (GRCm39)	N56S	probably damaging	Het
Gpam	A	C	19: 55,079,597 (GRCm39)	S128R	probably benign	Het
Gucy1b2	C	T	14: 62,690,779 (GRCm39)		probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hmx3	C	T	7: 131,146,146 (GRCm39)	Q285*	probably null	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighv5-17	T	C	12: 113,822,878 (GRCm39)	D81G	possibly damaging	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Iqcd	A	G	5: 120,740,440 (GRCm39)	Q257R	probably damaging	Het
Itpk1	T	C	12: 102,540,225 (GRCm39)	N286S	possibly damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Ksr2	T	A	5: 117,846,305 (GRCm39)	V724E	probably damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,355,907 (GRCm39)	T622S	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtmr2	A	G	9: 13,699,943 (GRCm39)	Y38C	probably damaging	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nadsyn1	T	A	7: 143,362,567 (GRCm39)	R279W	probably benign	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56b35	T	A	7: 104,963,646 (GRCm39)	F145Y	probably damaging	Het
Or7a38	G	A	10: 78,753,420 (GRCm39)	V249I	possibly damaging	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Prkar1b	T	C	5: 139,113,544 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,828,076 (GRCm39)	Y467H	probably damaging	Het
Rin1	A	G	19: 5,102,652 (GRCm39)	E387G	probably damaging	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Seh1l	C	T	18: 67,908,069 (GRCm39)		probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Snrnp70	GCGGTCCCGGTCCCGGTC	GCGGTCCCGGTC	7: 45,026,657 (GRCm39)		probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Spin1	A	G	13: 51,293,563 (GRCm39)	Y91C	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trim30c	T	A	7: 104,037,511 (GRCm39)	M152L	possibly damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Wdr11	T	C	7: 129,226,973 (GRCm39)	S812P	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zdbf2	T	G	1: 63,343,570 (GRCm39)	C650G	possibly damaging	Het
Zfp282	T	A	6: 47,882,261 (GRCm39)	N649K	probably benign	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
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
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'- CCAAGTGAGTGCTACAGGAC -3'
(R):5'- GTAAGGCCATCTGCATTTGC -3'

Sequencing Primer
(F):5'- AGTGATATCTCGGGGATCTG -3'
(R):5'- AAGGCCATCTGCATTTGCACTTC -3'

Posted On

2016-08-04