Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03334:Krr1'

List |< first << previous [record 19 of 38] next >> last >|

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

2610511F02Rik, D10Ertd773e, Hrb2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

111972664-111988432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111980054 bp

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]

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: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837		probably null	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	Het

Other mutations in Krr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
curtains	UTSW	10	111975599	missense	probably damaging	1.00
R0452:Krr1	UTSW	10	111975598	missense	probably damaging	1.00
R1196:Krr1	UTSW	10	111975657	missense	probably benign	0.33
R2010:Krr1	UTSW	10	111975569	missense	possibly damaging	0.94
R2084:Krr1	UTSW	10	111976785	missense	probably damaging	1.00
R4606:Krr1	UTSW	10	111975677	intron	probably benign
R4860:Krr1	UTSW	10	111985691	unclassified	probably benign
R5652:Krr1	UTSW	10	111977383	missense	possibly damaging	0.77
R7657:Krr1	UTSW	10	111975599	missense	probably damaging	1.00
R8215:Krr1	UTSW	10	111979929	nonsense	probably null
R8292:Krr1	UTSW	10	111977116	missense	possibly damaging	0.74
R8364:Krr1	UTSW	10	111977199	missense	probably damaging	1.00

Posted On

2016-08-02