Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Krr1'

416970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krr1

Ensembl Gene

ENSMUSG00000063334

Gene Name

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

Synonyms

Hrb2, D10Ertd773e, 2610511F02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

111808600-111824335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111815959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 275 (S275R)

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 benign
Transcript: ENSMUST00000163048
AA Change: S275R

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125746
Gene: ENSMUSG00000063334
AA Change: S275R

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 benign
Transcript: ENSMUST00000174653

SMART Domains

Protein: ENSMUSP00000134408
Gene: ENSMUSG00000063334

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,302 (GRCm39)	F762L	probably benign	Het
Angpt1	T	A	15: 42,359,808 (GRCm39)	E208V	possibly damaging	Het
Arhgef18	A	T	8: 3,438,023 (GRCm39)	I286F	probably benign	Het
Arhgef5	T	C	6: 43,250,934 (GRCm39)	S562P	possibly damaging	Het
Asb6	T	C	2: 30,714,496 (GRCm39)	T205A	probably benign	Het
B4galnt4	G	A	7: 140,647,354 (GRCm39)		probably null	Het
Clca4a	A	T	3: 144,659,627 (GRCm39)	M743K	probably benign	Het
Col14a1	T	C	15: 55,312,217 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,232,959 (GRCm39)	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,394,234 (GRCm39)	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,373,890 (GRCm39)		probably null	Het
Fnbp1l	A	G	3: 122,351,598 (GRCm39)	V315A	probably benign	Het
Gm17174	T	A	14: 51,829,420 (GRCm39)	R48*	probably null	Het
Golga4	C	T	9: 118,366,301 (GRCm39)		probably benign	Het
Grin1	C	T	2: 25,188,405 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,765,401 (GRCm39)	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,733,543 (GRCm39)	S93P	probably benign	Het
Il27ra	A	G	8: 84,757,751 (GRCm39)	V594A	probably benign	Het
Lars1	T	C	18: 42,354,571 (GRCm39)	D792G	probably benign	Het
Myo1f	G	A	17: 33,817,168 (GRCm39)	R737H	probably damaging	Het
Nebl	T	A	2: 17,418,522 (GRCm39)	H292L	probably damaging	Het
Nell1	C	A	7: 49,712,359 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,577,242 (GRCm39)	F412L	probably benign	Het
Nlrp3	T	A	11: 59,439,842 (GRCm39)	I473N	probably damaging	Het
Or1j10	T	C	2: 36,267,063 (GRCm39)	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,844,810 (GRCm39)	V1383A	probably damaging	Het
Prss48	T	C	3: 85,904,625 (GRCm39)	E191G	probably damaging	Het
Psg25	T	A	7: 18,263,699 (GRCm39)	L41F	probably benign	Het
Sema3b	A	G	9: 107,481,276 (GRCm39)	L78P	probably damaging	Het
Spen	G	T	4: 141,197,280 (GRCm39)	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,420,104 (GRCm39)	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,172,491 (GRCm39)		probably benign	Het
Vmn1r218	T	C	13: 23,320,788 (GRCm39)	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,789,493 (GRCm39)	Y748F	probably damaging	Het
Vps18	C	T	2: 119,127,963 (GRCm39)	R929W	probably damaging	Het
Xpnpep1	T	C	19: 52,998,577 (GRCm39)	K224E	probably damaging	Het
Zbed5	T	A	5: 129,931,196 (GRCm39)	F382I	possibly damaging	Het

Other mutations in Krr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2084:Krr1	UTSW	10	111,812,690 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02