Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00471:Shq1'

5398

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

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL00471

Quality Score

Status

Chromosome

Chromosomal Location

100568256-100671157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100664483 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 146 (S146P)

Ref Sequence

ENSEMBL: ENSMUSP00000127797 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089245
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: S146P

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: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: S146P

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

noncoding transcript
Transcript: ENSMUST00000162776

Predicted Effect

probably benign
Transcript: ENSMUST00000170667
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: S146P

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: ENSMUST00000204269

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,509,542	V2793A	probably damaging	Het
Agbl2	A	G	2: 90,801,045	Y249C	probably damaging	Het
Anks1	T	C	17: 28,058,416	S1082P	possibly damaging	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
C4b	T	G	17: 34,734,429	T1027P	probably damaging	Het
Clec4d	A	T	6: 123,274,773	I205F	probably damaging	Het
Cpeb2	A	T	5: 43,285,831	Y955F	probably damaging	Het
Cst13	T	A	2: 148,830,304	M133K	probably damaging	Het
Dnah10	T	C	5: 124,794,341	L2418P	probably damaging	Het
Gli3	T	C	13: 15,723,769		probably null	Het
Hgfac	C	A	5: 35,046,526	H463N	probably damaging	Het
Hlx	A	T	1: 184,731,595	F183I	probably damaging	Het
Ighv1-5	T	G	12: 114,513,473	I70L	probably benign	Het
Ltbp2	T	C	12: 84,791,064	T1181A	probably damaging	Het
Morn1	A	C	4: 155,092,328	K140Q	possibly damaging	Het
Nek1	A	T	8: 61,043,284	M358L	probably benign	Het
Pcbd2	C	T	13: 55,776,600		probably benign	Het
Pramel7	A	T	2: 87,491,085	L202Q	probably damaging	Het
Slc25a21	T	C	12: 56,718,137		probably null	Het
Slc26a7	A	T	4: 14,548,403		probably benign	Het
Sspo	G	A	6: 48,498,213		probably benign	Het
Stam2	T	C	2: 52,720,935	D25G	probably damaging	Het
Tbx18	A	T	9: 87,705,623	D480E	possibly damaging	Het
Tmem26	A	T	10: 68,778,681	I309F	possibly damaging	Het
Ube2c	A	G	2: 164,771,293	T44A	probably benign	Het

Other mutations in Shq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01580:Shq1	APN	6	100573744	missense	possibly damaging	0.94
IGL02125:Shq1	APN	6	100631006	missense	probably benign	0.00
IGL02401:Shq1	APN	6	100648247	missense	probably damaging	1.00
IGL02811:Shq1	APN	6	100630984	missense	probably damaging	0.98
IGL03112:Shq1	APN	6	100573613	nonsense	probably null
R0309:Shq1	UTSW	6	100573627	missense	probably benign	0.01
R1163:Shq1	UTSW	6	100637072	missense	probably damaging	1.00
R1456:Shq1	UTSW	6	100669698	critical splice donor site	probably null
R1726:Shq1	UTSW	6	100637035	missense	probably benign	0.03
R2310:Shq1	UTSW	6	100631002	nonsense	probably null
R4428:Shq1	UTSW	6	100670928	missense	probably damaging	1.00
R5038:Shq1	UTSW	6	100630993	missense	probably benign	0.29
R5053:Shq1	UTSW	6	100655259	missense	probably damaging	1.00
R5628:Shq1	UTSW	6	100631003	missense	probably damaging	0.98
R5750:Shq1	UTSW	6	100611814	missense	possibly damaging	0.67
R5817:Shq1	UTSW	6	100573720	missense	probably damaging	0.96
R6504:Shq1	UTSW	6	100648247	missense	probably benign	0.21
R7665:Shq1	UTSW	6	100573756	missense	probably damaging	1.00
R7710:Shq1	UTSW	6	100671045	missense	probably damaging	1.00
R7803:Shq1	UTSW	6	100671045	missense	probably damaging	1.00

Posted On

2012-04-20