Mutagenetix > Incidental Mutation

Incidental Mutation 'R7803:Shq1'

600603

Institutional Source

Beutler Lab

Gene Symbol

Shq1

Ensembl Gene

ENSMUSG00000035378

Gene Name

SHQ1 homolog (S. cerevisiae)

Synonyms

2810403P18Rik, Grim-1

MMRRC Submission

045858-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7803 (G1)

Quality Score

225.009

Status

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (49/50)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	A	19: 34,220,818 (GRCm39)	A297S	probably benign	Het
Ada	A	G	2: 163,577,288 (GRCm39)	Y67H	probably benign	Het
Adcy9	A	G	16: 4,122,244 (GRCm39)	I839T	probably benign	Het
Arg1	C	T	10: 24,792,689 (GRCm39)	V182I	possibly damaging	Het
Cbx7	G	A	15: 79,818,024 (GRCm39)	T26M	unknown	Het
Ceacam5	A	G	7: 17,493,317 (GRCm39)	Y780C	probably damaging	Het
Ces2h	A	G	8: 105,745,032 (GRCm39)	M389V	probably benign	Het
Chst11	A	T	10: 83,027,020 (GRCm39)	E149V	possibly damaging	Het
Clstn1	T	C	4: 149,716,328 (GRCm39)	W265R	probably damaging	Het
Col4a4	A	G	1: 82,467,419 (GRCm39)		probably null	Het
Csrp3	T	G	7: 48,483,545 (GRCm39)	K119T	probably benign	Het
Ddx39a	T	C	8: 84,446,229 (GRCm39)		probably null	Het
Ddx41	A	G	13: 55,679,734 (GRCm39)	I437T	probably damaging	Het
Eif1ad4	T	A	12: 87,862,269 (GRCm39)	C44S	probably benign	Het
Fbln5	A	T	12: 101,728,077 (GRCm39)	D282E	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gch1	T	A	14: 47,426,418 (GRCm39)	T103S	probably benign	Het
Gpr149	A	G	3: 62,438,136 (GRCm39)	S674P	probably damaging	Het
Hecw1	G	T	13: 14,408,927 (GRCm39)	R1127S	probably benign	Het
Hmcn1	A	T	1: 150,646,030 (GRCm39)	C723S	probably benign	Het
Impg2	T	C	16: 56,087,513 (GRCm39)	S1111P	probably damaging	Het
Insl3	T	C	8: 72,141,984 (GRCm39)	L28P	probably damaging	Het
Kifc1	T	C	17: 34,103,714 (GRCm39)	D203G	probably benign	Het
Kmt2d	A	T	15: 98,760,804 (GRCm39)	S849T	unknown	Het
Krt33b	A	G	11: 99,916,084 (GRCm39)		probably null	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Maml2	AGC	AGCCGC	9: 13,532,550 (GRCm39)		probably benign	Het
Maml2	AGC	AGCCGC	9: 13,532,571 (GRCm39)		probably benign	Het
Maml2	GCA	GCACCA	9: 13,532,572 (GRCm39)		probably benign	Het
Nsun7	T	A	5: 66,433,884 (GRCm39)	L178*	probably null	Het
Or6c1b	A	G	10: 129,272,800 (GRCm39)	N40D	probably damaging	Het
Or6c205	A	T	10: 129,086,864 (GRCm39)	I154F	probably benign	Het
Or8g55	A	T	9: 39,785,378 (GRCm39)	D269V	probably benign	Het
Orc6	T	A	8: 86,030,037 (GRCm39)	S136T	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,779,377 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,623,960 (GRCm39)	D3308N	probably null	Het
Rtkn2	G	A	10: 67,815,643 (GRCm39)		probably null	Het
Sele	T	C	1: 163,878,263 (GRCm39)	S201P	possibly damaging	Het
Sparc	A	T	11: 55,300,797 (GRCm39)	I5N	probably damaging	Het
Spata31e3	A	G	13: 50,400,226 (GRCm39)	V700A	probably benign	Het
Srm	T	C	4: 148,678,402 (GRCm39)	I238T	probably damaging	Het
Stx2	C	A	5: 129,070,627 (GRCm39)	E97*	probably null	Het
Sugp2	C	T	8: 70,704,722 (GRCm39)	P753L	probably benign	Het
Tenm2	A	T	11: 35,937,943 (GRCm39)	S1578T	probably damaging	Het
Tff3	T	C	17: 31,348,544 (GRCm39)	T3A	probably benign	Het
Tmem38a	C	T	8: 73,325,964 (GRCm39)	A6V	probably benign	Het
Trbv16	G	A	6: 41,128,929 (GRCm39)	A38T	not run	Het
Trim30a	G	A	7: 104,060,604 (GRCm39)	Q391*	probably null	Het
Ttn	T	G	2: 76,606,715 (GRCm39)	Y18065S	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vmn2r24	T	A	6: 123,757,438 (GRCm39)	M102K	probably benign	Het
Vmn2r69	G	T	7: 85,056,324 (GRCm39)	H605N	probably benign	Het
Washc1	T	A	17: 66,426,055 (GRCm39)	M451K	possibly damaging	Het
Washc3	G	T	10: 88,051,937 (GRCm39)		probably null	Het
Washc5	A	T	15: 59,240,308 (GRCm39)	Y112N	probably damaging	Het
Zbtb40	T	A	4: 136,744,638 (GRCm39)	T261S	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
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
R7710: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'- TGCAGGGCATCTTTCTCAATCTG -3'

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

Posted On

2019-11-26