Mutagenetix > Incidental Mutation

Incidental Mutation 'R5053:Shq1'

500900

Institutional Source

Beutler Lab

Gene Symbol

Shq1

Ensembl Gene

ENSMUSG00000035378

Gene Name

SHQ1 homolog (S. cerevisiae)

Synonyms

2810403P18Rik, Grim-1

MMRRC Submission

042643-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5053 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100548772-100648135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100632220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 202 (L202P)

Ref Sequence

ENSEMBL: ENSMUSP00000127797 (fasta)

Gene Model

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

AlphaFold

Q7TMX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000089245
AA Change: L202P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: L202P

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: L202P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: L202P

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: L202P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: L202P

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

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,035,250 (GRCm39)	I259F	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Adsl	T	C	15: 80,844,651 (GRCm39)	C180R	probably damaging	Het
Ahctf1	A	G	1: 179,614,349 (GRCm39)	I448T	possibly damaging	Het
Alg9	G	T	9: 50,699,472 (GRCm39)	G200W	probably damaging	Het
Amhr2	G	A	15: 102,355,693 (GRCm39)	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,774,248 (GRCm39)	L200*	probably null	Het
As3mt	A	G	19: 46,697,493 (GRCm39)	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,114,068 (GRCm39)	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,392,063 (GRCm39)	Y468F	probably damaging	Het
Cep250	A	G	2: 155,804,848 (GRCm39)	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,616,882 (GRCm39)	T923A	probably benign	Het
Clec16a	T	C	16: 10,394,461 (GRCm39)	L273P	probably damaging	Het
Comtd1	T	C	14: 21,897,764 (GRCm39)	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,271 (GRCm39)	E144V	probably damaging	Het
Cyp2c37	G	A	19: 39,990,331 (GRCm39)	S343N	probably benign	Het
Dennd6a	C	A	14: 26,329,738 (GRCm39)	T103K	probably damaging	Het
Ect2l	A	G	10: 18,016,093 (GRCm39)	L733P	probably damaging	Het
Erg	T	A	16: 95,325,393 (GRCm39)	H11L	probably benign	Het
Ero1b	T	C	13: 12,614,795 (GRCm39)	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,048,766 (GRCm39)	L135*	probably null	Het
Frmd4a	A	T	2: 4,608,732 (GRCm39)	T867S	probably damaging	Het
Gm815	C	T	19: 26,863,813 (GRCm39)	A18V	unknown	Het
Gna12	C	A	5: 140,746,482 (GRCm39)	R321L	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,264,643 (GRCm39)	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,957 (GRCm39)	Q551K	probably benign	Het
Klhl11	C	T	11: 100,363,026 (GRCm39)	V177M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,662,269 (GRCm39)	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,740,489 (GRCm39)	M223K	probably damaging	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Mme	T	A	3: 63,272,270 (GRCm39)	V623E	probably damaging	Het
Ndc1	T	C	4: 107,231,415 (GRCm39)	S119P	probably damaging	Het
Nfs1	A	C	2: 155,968,318 (GRCm39)	C383G	probably damaging	Het
Nphp4	A	G	4: 152,628,919 (GRCm39)		probably null	Het
Oca2	C	A	7: 55,973,328 (GRCm39)	Q411K	probably benign	Het
Or10ab4	A	G	7: 107,654,741 (GRCm39)	H184R	probably benign	Het
Or11h23	T	A	14: 50,947,968 (GRCm39)	Y60*	probably null	Het
Or1ad1	G	A	11: 50,876,137 (GRCm39)	G203D	probably damaging	Het
Or4c15	C	A	2: 88,760,597 (GRCm39)	V21F	probably benign	Het
Or8k25	A	G	2: 86,243,682 (GRCm39)	F238S	probably damaging	Het
Pcdh7	A	T	5: 57,878,943 (GRCm39)	T493S	probably damaging	Het
Phf20	T	C	2: 156,115,782 (GRCm39)	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,607,686 (GRCm39)	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,299,442 (GRCm39)	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,471 (GRCm39)	Q215K	probably benign	Het
Prpf6	T	C	2: 181,291,246 (GRCm39)	V687A	probably benign	Het
Ptprq	T	A	10: 107,399,063 (GRCm39)	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,541,073 (GRCm39)	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,309,473 (GRCm39)		probably null	Het
Sertad3	T	A	7: 27,175,947 (GRCm39)	V127E	probably benign	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Sp8	C	T	12: 118,813,339 (GRCm39)	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,231,599 (GRCm39)	D125E	probably benign	Het
Trim3	G	T	7: 105,266,968 (GRCm39)	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315 (GRCm39)	C88*	probably null	Het
Unc79	T	A	12: 103,071,007 (GRCm39)	D1124E	probably damaging	Het
Usf3	T	C	16: 44,037,550 (GRCm39)	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,664,241 (GRCm39)		probably null	Het
Zfp819	C	T	7: 43,266,570 (GRCm39)	T275I	probably damaging	Het
Zranb2	T	A	3: 157,246,796 (GRCm39)	D161E	probably damaging	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
IGL02125:Shq1	APN	6	100,607,967 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACATGTACAGCCATTACAGAGTAGG -3'
(R):5'- ACAGGTCTTCCAGCCTTCATG -3'

Sequencing Primer
(F):5'- AGGATGGCCATTTAGCTCAC -3'
(R):5'- GTCTTCCAGCCTTCATGTTCCTC -3'

Posted On

2017-12-01