Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02125:Shq1'

280815

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shq1

Ensembl Gene

ENSMUSG00000035378

Gene Name

SHQ1 homolog (S. cerevisiae)

Synonyms

2810403P18Rik, Grim-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL02125

Quality Score

Status

Chromosome

Chromosomal Location

100548772-100648135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100607967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 315 (T315A)

Ref Sequence

ENSEMBL: ENSMUSP00000127797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089245] [ENSMUST00000113312] [ENSMUST00000170667]

AlphaFold

Q7TMX5

Predicted Effect

probably benign
Transcript: ENSMUST00000089245

SMART Domains

Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378

Domain	Start	End	E-Value	Type
PDB:2K8Q\|A	2	116	1e-9	PDB
low complexity region	117	132	N/A	INTRINSIC
Pfam:SHQ1	237	308	1e-19	PFAM
low complexity region	341	362	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113312
AA Change: T315A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: T315A

Domain	Start	End	E-Value	Type
PDB:2K8Q\|A	2	116	1e-9	PDB
low complexity region	117	132	N/A	INTRINSIC
Pfam:SHQ1	232	419	5.8e-72	PFAM
low complexity region	452	473	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170667
AA Change: T315A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: T315A

Domain	Start	End	E-Value	Type
PDB:2K8Q\|A	2	116	1e-9	PDB
low complexity region	117	132	N/A	INTRINSIC
Pfam:SHQ1	241	416	8.5e-72	PFAM
low complexity region	452	473	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203525

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,324,974 (GRCm39)	C493*	probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd12	A	G	17: 66,277,139 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,506,413 (GRCm39)	T213I	probably damaging	Het
Baz2b	A	G	2: 59,798,984 (GRCm39)	L380S	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cacna2d2	C	T	9: 107,391,103 (GRCm39)	Q411*	probably null	Het
Cdh19	A	G	1: 110,857,614 (GRCm39)	V240A	possibly damaging	Het
Cltc	A	T	11: 86,595,636 (GRCm39)		probably benign	Het
Dclk3	T	A	9: 111,298,175 (GRCm39)	V573E	probably damaging	Het
Dhx29	T	C	13: 113,091,834 (GRCm39)		probably benign	Het
Dip2b	T	C	15: 100,084,131 (GRCm39)	L918P	possibly damaging	Het
Dzip3	A	T	16: 48,747,959 (GRCm39)	N1150K	probably damaging	Het
Fgf5	T	C	5: 98,402,391 (GRCm39)	S41P	possibly damaging	Het
Galc	A	T	12: 98,197,768 (GRCm39)	Y120N	probably damaging	Het
Gldc	T	C	19: 30,124,641 (GRCm39)	N219S	probably benign	Het
Gm11563	A	T	11: 99,549,631 (GRCm39)	V41E	unknown	Het
Gpatch11	T	A	17: 79,147,538 (GRCm39)	N106K	probably benign	Het
Gpx3	A	G	11: 54,798,068 (GRCm39)	N68S	probably damaging	Het
Ibtk	T	C	9: 85,617,123 (GRCm39)	N150D	probably damaging	Het
Iglc2	G	A	16: 19,017,462 (GRCm39)	P48S	probably benign	Het
Itih5	G	A	2: 10,245,798 (GRCm39)	R629H	probably benign	Het
Kank1	T	A	19: 25,388,067 (GRCm39)	V552E	possibly damaging	Het
Kmt2a	T	A	9: 44,759,983 (GRCm39)	H655L	probably damaging	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Mrtfb	A	G	16: 13,218,047 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,913,188 (GRCm39)	I6943T	probably damaging	Het
Obscn	G	T	11: 58,984,152 (GRCm39)	Q1768K	possibly damaging	Het
Or51k2	T	A	7: 103,596,279 (GRCm39)	C169S	probably damaging	Het
Or5ac25	T	C	16: 59,181,879 (GRCm39)	N234S	probably benign	Het
Otud3	A	T	4: 138,624,025 (GRCm39)		probably null	Het
Parp4	A	G	14: 56,827,959 (GRCm39)	K237E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pttg1ip2	T	C	5: 5,500,644 (GRCm39)	*151W	probably null	Het
Rbbp6	T	C	7: 122,570,352 (GRCm39)		probably null	Het
Rdh16	G	T	10: 127,647,188 (GRCm39)		probably benign	Het
Ropn1	A	G	16: 34,487,147 (GRCm39)	T28A	probably benign	Het
Sec24d	T	C	3: 123,152,607 (GRCm39)	V873A	probably damaging	Het
Serpinb3b	T	A	1: 107,082,474 (GRCm39)	L263F	probably damaging	Het
Slc13a4	T	C	6: 35,255,223 (GRCm39)	E355G	probably benign	Het
Slc26a9	T	C	1: 131,687,175 (GRCm39)	S445P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc4a10	A	T	2: 62,098,515 (GRCm39)	M550L	probably benign	Het
Spata31e5	T	C	1: 28,815,419 (GRCm39)	N871S	possibly damaging	Het
Syt17	T	C	7: 118,009,197 (GRCm39)	D341G	probably benign	Het
Tmem62	A	G	2: 120,826,993 (GRCm39)	Y430C	probably benign	Het
Upp1	A	G	11: 9,075,650 (GRCm39)		probably benign	Het
Vmn1r91	T	G	7: 19,835,429 (GRCm39)	V116G	probably damaging	Het
Vmn2r101	A	T	17: 19,809,963 (GRCm39)	I250F	possibly damaging	Het
Vmn2r116	T	G	17: 23,616,601 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,399,919 (GRCm39)	V377I	probably benign	Het
Zfp592	G	T	7: 80,687,932 (GRCm39)	A953S	probably benign	Het

Other mutations in Shq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Shq1	APN	6	100,641,444 (GRCm39)	missense	probably benign	0.00
IGL01580:Shq1	APN	6	100,550,705 (GRCm39)	missense	possibly damaging	0.94
IGL02401:Shq1	APN	6	100,625,208 (GRCm39)	missense	probably damaging	1.00
IGL02811:Shq1	APN	6	100,607,945 (GRCm39)	missense	probably damaging	0.98
IGL03112:Shq1	APN	6	100,550,574 (GRCm39)	nonsense	probably null
R0309:Shq1	UTSW	6	100,550,588 (GRCm39)	missense	probably benign	0.01
R1163:Shq1	UTSW	6	100,614,033 (GRCm39)	missense	probably damaging	1.00
R1456:Shq1	UTSW	6	100,646,659 (GRCm39)	critical splice donor site	probably null
R1726:Shq1	UTSW	6	100,613,996 (GRCm39)	missense	probably benign	0.03
R2310:Shq1	UTSW	6	100,607,963 (GRCm39)	nonsense	probably null
R4428:Shq1	UTSW	6	100,647,889 (GRCm39)	missense	probably damaging	1.00
R5038:Shq1	UTSW	6	100,607,954 (GRCm39)	missense	probably benign	0.29
R5053:Shq1	UTSW	6	100,632,220 (GRCm39)	missense	probably damaging	1.00
R5628:Shq1	UTSW	6	100,607,964 (GRCm39)	missense	probably damaging	0.98
R5750:Shq1	UTSW	6	100,588,775 (GRCm39)	missense	possibly damaging	0.67
R5817:Shq1	UTSW	6	100,550,681 (GRCm39)	missense	probably damaging	0.96
R6504:Shq1	UTSW	6	100,625,208 (GRCm39)	missense	probably benign	0.21
R7665:Shq1	UTSW	6	100,550,717 (GRCm39)	missense	probably damaging	1.00
R7710:Shq1	UTSW	6	100,648,006 (GRCm39)	missense	probably damaging	1.00
R7803:Shq1	UTSW	6	100,648,006 (GRCm39)	missense	probably damaging	1.00
R7992:Shq1	UTSW	6	100,613,972 (GRCm39)	missense	probably damaging	1.00
R8215:Shq1	UTSW	6	100,648,021 (GRCm39)	start codon destroyed	probably null	1.00
R9153:Shq1	UTSW	6	100,588,738 (GRCm39)	missense	probably damaging	1.00
R9346:Shq1	UTSW	6	100,641,431 (GRCm39)	missense	probably damaging	1.00
R9641:Shq1	UTSW	6	100,550,633 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16