Mutagenetix > Incidental Mutation

Incidental Mutation 'R2084:Krr1'

230215

Institutional Source

Beutler Lab

Gene Symbol

Krr1

Ensembl Gene

ENSMUSG00000063334

Gene Name

KRR1, small subunit (SSU) processome component, homolog (yeast)

Synonyms

Hrb2, D10Ertd773e, 2610511F02Rik

MMRRC Submission

040089-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R2084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111808600-111824335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111812690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 100 (V100A)

Ref Sequence

ENSEMBL: ENSMUSP00000125746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163048] [ENSMUST00000174653]

AlphaFold

Q8BGA5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000075924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162678

Predicted Effect

probably damaging
Transcript: ENSMUST00000163048
AA Change: V100A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334
AA Change: V100A

Domain	Start	End	E-Value	Type
KH	138	210	4.85e-6	SMART
low complexity region	246	264	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
low complexity region	339	363	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174653
AA Change: V100A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334
AA Change: V100A

Domain	Start	End	E-Value	Type
KH	138	210	4.85e-6	SMART
low complexity region	265	277	N/A	INTRINSIC
low complexity region	282	306	N/A	INTRINSIC

Meta Mutation Damage Score

0.7433

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	C	T	11: 5,612,378 (GRCm39)	Q1237*	probably null	Het
Aph1c	T	G	9: 66,726,579 (GRCm39)	R258S	probably damaging	Het
Arfgap3	T	A	15: 83,218,767 (GRCm39)	N102I	probably damaging	Het
Astn1	T	C	1: 158,299,978 (GRCm39)	V106A	probably damaging	Het
BC005537	G	T	13: 24,996,698 (GRCm39)		probably null	Het
Card10	G	A	15: 78,677,171 (GRCm39)	T412M	possibly damaging	Het
Cars1	T	C	7: 143,140,919 (GRCm39)	I126M	probably benign	Het
Cfap20dc	T	C	14: 8,558,171 (GRCm38)	D138G	probably damaging	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Cpped1	T	C	16: 11,646,365 (GRCm39)	D153G	probably damaging	Het
Cyp2j11	T	A	4: 96,227,438 (GRCm39)	I193F	probably damaging	Het
Dnm2	T	C	9: 21,411,667 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,865,763 (GRCm39)	D288G	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Fcgbpl1	G	A	7: 27,856,960 (GRCm39)	V2103M	probably damaging	Het
Fcrl5	T	C	3: 87,351,537 (GRCm39)	F262L	probably benign	Het
Gh	G	A	11: 106,191,958 (GRCm39)	P84L	probably damaging	Het
Gm10267	T	C	18: 44,290,397 (GRCm39)	R37G	probably benign	Het
Hmgxb3	C	T	18: 61,288,095 (GRCm39)		probably benign	Het
Ifit2	T	C	19: 34,550,750 (GRCm39)	W97R	probably damaging	Het
Ift81	T	G	5: 122,705,410 (GRCm39)	K491Q	probably benign	Het
Ints8	A	G	4: 11,230,377 (GRCm39)	V488A	probably benign	Het
Krba1	T	A	6: 48,391,502 (GRCm39)	L797Q	probably damaging	Het
Nav1	C	T	1: 135,535,158 (GRCm39)		probably benign	Het
Nos1	C	A	5: 118,081,310 (GRCm39)	Q1205K	probably damaging	Het
Nup85	A	T	11: 115,459,517 (GRCm39)	D125V	possibly damaging	Het
Or5ak23	T	C	2: 85,244,959 (GRCm39)	E88G	probably benign	Het
Pclo	T	G	5: 14,732,162 (GRCm39)	S3555A	probably benign	Het
Pdzrn3	T	C	6: 101,131,256 (GRCm39)	I473V	probably benign	Het
Polr1a	A	G	6: 71,927,793 (GRCm39)	E848G	possibly damaging	Het
Pop1	T	C	15: 34,508,744 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,425,920 (GRCm39)	T8S	probably damaging	Het
Prpf3	C	T	3: 95,756,301 (GRCm39)	E117K	probably benign	Het
Psmg3	C	T	5: 139,809,744 (GRCm39)	V101M	probably benign	Het
Rexo1	G	A	10: 80,397,100 (GRCm39)	S52L	probably benign	Het
Ryk	C	T	9: 102,752,971 (GRCm39)	T210M	probably damaging	Het
Sde2	A	G	1: 180,690,198 (GRCm39)	E306G	probably damaging	Het
Sec24c	A	G	14: 20,741,347 (GRCm39)	Q658R	probably benign	Het
Sgsm1	G	A	5: 113,433,266 (GRCm39)	T183I	probably damaging	Het
Skint7	T	A	4: 111,837,375 (GRCm39)	V51E	probably damaging	Het
Slc6a5	T	A	7: 49,598,002 (GRCm39)	M622K	probably benign	Het
Slco1a5	T	C	6: 142,180,437 (GRCm39)	H655R	probably benign	Het
Slco1c1	T	A	6: 141,505,578 (GRCm39)	Y452*	probably null	Het
Spn	T	C	7: 126,736,210 (GRCm39)	E99G	probably benign	Het
Ssc5d	A	G	7: 4,940,011 (GRCm39)	I789V	probably benign	Het
Taok2	G	A	7: 126,469,363 (GRCm39)	T1155I	probably benign	Het
Tet2	T	C	3: 133,193,528 (GRCm39)	Q302R	possibly damaging	Het
Trmt1l	A	G	1: 151,316,605 (GRCm39)	T189A	probably damaging	Het
Tubal3	T	C	13: 3,978,192 (GRCm39)	I36T	possibly damaging	Het
Vmn2r71	A	T	7: 85,267,945 (GRCm39)	Y133F	probably benign	Het
Vps11	G	T	9: 44,264,558 (GRCm39)	H673N	probably benign	Het
Zc3h12a	C	T	4: 125,013,802 (GRCm39)	S354N	probably benign	Het
Zfp2	A	G	11: 50,791,789 (GRCm39)	S85P	probably benign	Het

Other mutations in Krr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03334:Krr1	APN	10	111,815,959 (GRCm39)	missense	probably benign	0.45
curtains	UTSW	10	111,811,504 (GRCm39)	missense	probably damaging	1.00
R0452:Krr1	UTSW	10	111,811,503 (GRCm39)	missense	probably damaging	1.00
R1196:Krr1	UTSW	10	111,811,562 (GRCm39)	missense	probably benign	0.33
R2010:Krr1	UTSW	10	111,811,474 (GRCm39)	missense	possibly damaging	0.94
R4606:Krr1	UTSW	10	111,811,582 (GRCm39)	intron	probably benign
R4860:Krr1	UTSW	10	111,821,596 (GRCm39)	unclassified	probably benign
R5652:Krr1	UTSW	10	111,813,288 (GRCm39)	missense	possibly damaging	0.77
R7657:Krr1	UTSW	10	111,811,504 (GRCm39)	missense	probably damaging	1.00
R8215:Krr1	UTSW	10	111,815,834 (GRCm39)	nonsense	probably null
R8292:Krr1	UTSW	10	111,813,021 (GRCm39)	missense	possibly damaging	0.74
R8364:Krr1	UTSW	10	111,813,104 (GRCm39)	missense	probably damaging	1.00
R9417:Krr1	UTSW	10	111,813,026 (GRCm39)	missense	probably benign	0.10
R9603:Krr1	UTSW	10	111,812,672 (GRCm39)	missense	probably damaging	1.00
R9666:Krr1	UTSW	10	111,818,896 (GRCm39)	missense	possibly damaging	0.86
R9673:Krr1	UTSW	10	111,818,963 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAACGGCCCAGCTGATTC -3'
(R):5'- TGGAAAGACGCAGCATCAC -3'

Sequencing Primer
(F):5'- GCCCAGCTGATTCCAGGAG -3'
(R):5'- CATCACAGGCTGGGGAACAC -3'

Posted On

2014-09-18