Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Shq1'

591855

Institutional Source

Beutler Lab

Gene Symbol

Shq1

Ensembl Gene

ENSMUSG00000035378

Gene Name

SHQ1 homolog (S. cerevisiae)

Synonyms

2810403P18Rik, Grim-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100568256-100671157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100573756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 407 (L407W)

Ref Sequence

ENSEMBL: ENSMUSP00000108938 (fasta)

Gene Model

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

AlphaFold

Q7TMX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089245
AA Change: L296W

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: L296W

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 damaging
Transcript: ENSMUST00000113312
AA Change: L407W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: L407W

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 damaging
Transcript: ENSMUST00000170667
AA Change: L407W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: L407W

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Shq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Shq1	APN	6	100664483	missense	probably benign	0.00
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
R7710:Shq1	UTSW	6	100671045	missense	probably damaging	1.00
R7803:Shq1	UTSW	6	100671045	missense	probably damaging	1.00
R7992:Shq1	UTSW	6	100637011	missense	probably damaging	1.00
R8215:Shq1	UTSW	6	100671060	start codon destroyed	probably null	1.00
R9153:Shq1	UTSW	6	100611777	missense	probably damaging	1.00
R9346:Shq1	UTSW	6	100664470	missense	probably damaging	1.00
R9641:Shq1	UTSW	6	100573672	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAAAAGTGGGGCTTGC -3'
(R):5'- AGGGAATGCACACTTCCTCC -3'

Sequencing Primer
(F):5'- ACGCTGAGTCCTCTGTGC -3'
(R):5'- GAATGCACACTTCCTCCACAGC -3'

Posted On

2019-11-12