Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Knop1'

472384

Institutional Source

Beutler Lab

Gene Symbol

Knop1

Ensembl Gene

ENSMUSG00000030980

Gene Name

lysine rich nucleolar protein 1

Synonyms

2310008H09Rik, Tsg118

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118441440-118454907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118452557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 54 (V54G)

Ref Sequence

ENSEMBL: ENSMUSP00000114727 (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: V54G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
AA Change: V54G

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
AA Change: V2G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980
AA Change: V2G

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 damaging
Transcript: ENSMUST00000106550
AA Change: V54G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: V54G

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 damaging
Transcript: ENSMUST00000116280
AA Change: V54G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: V54G

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: ENSMUST00000152309
AA Change: V2G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117151
Gene: ENSMUSG00000030980
AA Change: V2G

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 damaging
Transcript: ENSMUST00000126792
AA Change: V54G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980
AA Change: V54G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	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
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
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
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'- TCCACATTGTTAGAAGGGGACG -3'
(R):5'- GCTCAAAGCCTTTTCTCTGGG -3'

Sequencing Primer
(F):5'- TTAGAAGGGGACGTGGCCC -3'
(R):5'- GTGTTCTTTCCTTCCAGAAAAGG -3'

Posted On

2017-03-31