Mutagenetix > Incidental Mutation

Incidental Mutation 'R7710:Shq1'

594530

Institutional Source

Beutler Lab

Gene Symbol

Shq1

Ensembl Gene

ENSMUSG00000035378

Gene Name

SHQ1 homolog (S. cerevisiae)

Synonyms

2810403P18Rik, Grim-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100548772-100648135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100648006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 6 (F6S)

Ref Sequence

ENSEMBL: ENSMUSP00000108938 (fasta)

Gene Model

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

AlphaFold

Q7TMX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000089245
AA Change: F6S

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

SMART Domains

Protein: ENSMUSP00000086656
Gene: ENSMUSG00000035378
AA Change: F6S

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: F6S

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

SMART Domains

Protein: ENSMUSP00000108938
Gene: ENSMUSG00000035378
AA Change: F6S

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: F6S

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

SMART Domains

Protein: ENSMUSP00000127797
Gene: ENSMUSG00000035378
AA Change: F6S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,150,810 (GRCm39)	E151K		Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Cacna2d4	A	G	6: 119,251,200 (GRCm39)	I463V	probably benign	Het
Calhm4	A	T	10: 33,920,045 (GRCm39)	M74K	possibly damaging	Het
Ccdc142	T	C	6: 83,078,677 (GRCm39)	S5P	probably benign	Het
Cd300ld	C	T	11: 114,875,038 (GRCm39)	V199M	probably damaging	Het
Cep162	T	C	9: 87,114,172 (GRCm39)	Y300C	probably damaging	Het
Ces2h	C	T	8: 105,727,497 (GRCm39)	Q5*	probably null	Het
Col9a3	C	T	2: 180,251,158 (GRCm39)	L310F	probably damaging	Het
Copa	A	G	1: 171,937,411 (GRCm39)	D454G	possibly damaging	Het
Ctnnbip1	A	C	4: 149,630,277 (GRCm39)	M29L	probably benign	Het
Ctnnbl1	A	G	2: 157,616,491 (GRCm39)	D64G	probably benign	Het
Dcxr	T	A	11: 120,617,908 (GRCm39)	T23S	probably benign	Het
Dennd1b	T	A	1: 138,990,670 (GRCm39)	H211Q	probably damaging	Het
Ercc8	G	A	13: 108,320,397 (GRCm39)	A328T	probably benign	Het
Fam217a	T	C	13: 35,095,111 (GRCm39)	D216G	possibly damaging	Het
Fat2	T	A	11: 55,201,589 (GRCm39)	Y495F	probably benign	Het
Fbxw13	G	A	9: 109,024,968 (GRCm39)	S15F	probably damaging	Het
Fras1	T	A	5: 96,792,962 (GRCm39)	C964*	probably null	Het
Fshr	T	A	17: 89,292,683 (GRCm39)	H665L	probably benign	Het
Gm10447	A	T	11: 53,347,437 (GRCm39)	C31S	unknown	Het
Gm13272	A	T	4: 88,698,586 (GRCm39)	Q167L	probably benign	Het
Gtpbp2	T	C	17: 46,478,713 (GRCm39)	I510T	possibly damaging	Het
Hps6	G	A	19: 45,993,007 (GRCm39)	A315T	probably benign	Het
Igfbp6	A	C	15: 102,056,285 (GRCm39)	T115P	probably damaging	Het
Ikzf4	A	G	10: 128,468,610 (GRCm39)	V623A	possibly damaging	Het
Il11ra1	T	C	4: 41,764,846 (GRCm39)	V100A	probably benign	Het
Ints1	T	C	5: 139,756,840 (GRCm39)	T493A	probably benign	Het
Itgax	C	T	7: 127,735,028 (GRCm39)	T453I	probably benign	Het
Kras	T	C	6: 145,166,354 (GRCm39)	T183A	probably benign	Het
Lhcgr	T	C	17: 89,050,210 (GRCm39)	T439A	probably damaging	Het
Lrrn4	T	C	2: 132,721,451 (GRCm39)	H122R	probably benign	Het
Muc2	A	T	7: 141,287,452 (GRCm39)	R210S	possibly damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo18b	T	C	5: 113,022,891 (GRCm39)	D167G	unknown	Het
Nedd8	G	A	14: 55,909,446 (GRCm39)		probably benign	Het
Or5b94	A	C	19: 12,652,340 (GRCm39)	Y257S	probably damaging	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pbxip1	T	A	3: 89,355,408 (GRCm39)	D642E	probably damaging	Het
Pcdhb10	A	T	18: 37,546,654 (GRCm39)	R577*	probably null	Het
Pcna-ps2	T	A	19: 9,261,489 (GRCm39)	Y249*	probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pla2g6	A	T	15: 79,171,358 (GRCm39)	V744E	probably damaging	Het
Ppfibp1	A	G	6: 146,897,903 (GRCm39)	I207V	probably benign	Het
Prr11	T	C	11: 86,994,433 (GRCm39)	D71G	probably benign	Het
Rnf150	A	C	8: 83,590,781 (GRCm39)	Y48S	probably damaging	Het
Rsf1	G	A	7: 97,331,041 (GRCm39)	G1237D		Het
Rusc2	C	T	4: 43,416,119 (GRCm39)	T475I	probably benign	Het
Scgb1b20	T	A	7: 33,072,867 (GRCm39)	I25N	probably damaging	Het
Sdr39u1	T	C	14: 56,137,116 (GRCm39)	N65S	probably benign	Het
Sh3gl3	T	C	7: 81,933,294 (GRCm39)	V219A	possibly damaging	Het
Shcbp1	A	G	8: 4,814,965 (GRCm39)	F171S	probably benign	Het
Slc12a4	C	T	8: 106,672,203 (GRCm39)	R868H	possibly damaging	Het
Smg6	T	C	11: 74,821,445 (GRCm39)	V572A	probably benign	Het
Syn3	A	G	10: 86,243,534 (GRCm39)	V135A	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Tmem253	A	T	14: 52,254,608 (GRCm39)	Q21L	possibly damaging	Het
Trpm3	G	T	19: 22,896,154 (GRCm39)	R997L	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Ugt1a9	A	G	1: 87,998,831 (GRCm39)	T94A	probably benign	Het
Vmn1r62	A	G	7: 5,678,182 (GRCm39)		probably benign	Het
Vmn2r61	T	C	7: 41,916,472 (GRCm39)	C362R	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp94	T	C	7: 24,003,107 (GRCm39)	K112E	probably benign	Het
Zfp954	A	T	7: 7,120,889 (GRCm39)	V47E	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
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
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'- GTGGGCTCCCGAATGAAAGC -3'
(R):5'- CTGCAGGGCATCTTTCTCAATC -3'

Sequencing Primer
(F):5'- TCCCGAATGAAAGCGGCAC -3'
(R):5'- TGTTTAAAAACTCCGCCCAGCTAG -3'

Posted On

2019-11-12