Mutagenetix > Incidental Mutation

Incidental Mutation 'R6880:Qki'

536635

Institutional Source

Beutler Lab

Gene Symbol

Qki

Ensembl Gene

ENSMUSG00000062078

Gene Name

quaking, KH domain containing RNA binding

Synonyms

l17Wis1, l(17)-1Wis, QkI, 1110003F05Rik, Qk

MMRRC Submission

044976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10425480-10538706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10434376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 321 (D321G)

Ref Sequence

ENSEMBL: ENSMUSP00000046740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042296] [ENSMUST00000097414]

AlphaFold

Q9QYS9

PDB Structure

Crystal structure of the Quaking Qua1 homodimerization domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000042296
AA Change: D321G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046740
Gene: ENSMUSG00000062078
AA Change: D321G

Domain	Start	End	E-Value	Type
KH	80	174	4.74e-9	SMART
low complexity region	211	226	N/A	INTRINSIC
low complexity region	230	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097414

SMART Domains

Protein: ENSMUSP00000095025
Gene: ENSMUSG00000062078

Domain	Start	End	E-Value	Type
Pfam:STAR_dimer	10	68	9.4e-31	PFAM
KH	80	174	4.74e-9	SMART
low complexity region	211	226	N/A	INTRINSIC
low complexity region	230	250	N/A	INTRINSIC
Pfam:Quaking_NLS	312	341	5.5e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Knock-out mice die in utero with defects in embryo turning, blood vessel, smooth muscle, cardiac and neural tube development. Homozygotes for a spontaneous allele are viable but show myelin, spermatogenic and behavioral defects, hind leg tremors and seizures. Most ENU-induced mutants die in utero. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,123,854 (GRCm39)		probably null	Het
Aff3	T	C	1: 38,574,243 (GRCm39)	H206R	probably damaging	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Alg5	A	G	3: 54,646,264 (GRCm39)	E43G	probably damaging	Het
Ankrd36	T	C	11: 5,578,748 (GRCm39)	L4P	probably damaging	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Atf7ip	A	G	6: 136,538,038 (GRCm39)	I432V	probably damaging	Het
B230307C23Rik	T	C	16: 97,798,627 (GRCm39)		probably benign	Het
Baz2b	T	A	2: 59,743,283 (GRCm39)	N1563Y	probably damaging	Het
Bhlha15	A	T	5: 144,128,451 (GRCm39)	T188S	probably damaging	Het
Cbr3	T	C	16: 93,487,426 (GRCm39)	V203A	probably benign	Het
Cpsf1	T	C	15: 76,486,739 (GRCm39)	T266A	probably benign	Het
Dnah7c	T	C	1: 46,566,831 (GRCm39)	Y681H	probably damaging	Het
Dock2	C	T	11: 34,579,279 (GRCm39)		probably null	Het
Dsc1	T	A	18: 20,221,429 (GRCm39)	D682V	probably damaging	Het
Fkbp15	A	T	4: 62,254,732 (GRCm39)	I256N	possibly damaging	Het
Foxd1	A	C	13: 98,491,225 (GRCm39)	D33A	unknown	Het
Gid4	T	A	11: 60,327,261 (GRCm39)	F149I	probably damaging	Het
Hmcn2	G	T	2: 31,233,068 (GRCm39)	V206L	probably damaging	Het
Ighg2b	T	C	12: 113,270,726 (GRCm39)	I135V		Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Impg1	T	A	9: 80,312,082 (GRCm39)	D167V	probably damaging	Het
Jakmip1	T	C	5: 37,262,967 (GRCm39)	S372P	possibly damaging	Het
Kcnb1	T	C	2: 166,947,727 (GRCm39)	T374A	probably damaging	Het
Lrrn4	A	G	2: 132,714,032 (GRCm39)	S305P	probably damaging	Het
Ltbp1	C	T	17: 75,628,044 (GRCm39)	T1179I	possibly damaging	Het
Mab21l2	A	G	3: 86,454,463 (GRCm39)	I179T	possibly damaging	Het
Myo5b	A	T	18: 74,855,501 (GRCm39)	H1230L	probably benign	Het
Myocos	T	C	1: 162,484,602 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,999 (GRCm39)	T249A	probably damaging	Het
Oas1a	C	A	5: 121,040,003 (GRCm39)	R196L	probably damaging	Het
Or2ag18	A	T	7: 106,405,019 (GRCm39)	S217T	probably damaging	Het
Or5an11	A	G	19: 12,245,974 (GRCm39)	I127V	probably benign	Het
Or8k41	A	G	2: 86,314,069 (GRCm39)	F6L	probably benign	Het
Phxr2	G	A	10: 98,961,946 (GRCm39)		probably benign	Het
Pigq	A	G	17: 26,153,802 (GRCm39)	L85P	probably damaging	Het
Pla2g4a	T	A	1: 149,727,202 (GRCm39)	D518V	possibly damaging	Het
Pm20d1	A	G	1: 131,731,839 (GRCm39)	K294E	probably benign	Het
Polr3d	C	A	14: 70,677,455 (GRCm39)	R307L	probably benign	Het
Pou5f2	T	C	13: 78,173,613 (GRCm39)	L185P	possibly damaging	Het
Prex2	A	T	1: 11,202,608 (GRCm39)	N506Y	probably damaging	Het
Proser1	T	A	3: 53,385,260 (GRCm39)	S381T	probably benign	Het
Prpf4b	T	C	13: 35,078,436 (GRCm39)	V682A	possibly damaging	Het
Prr14l	A	T	5: 32,988,211 (GRCm39)	L428Q	probably benign	Het
Prss23	A	G	7: 89,160,033 (GRCm39)	V12A	probably benign	Het
Rab11fip5	A	G	6: 85,325,827 (GRCm39)	L193P	probably damaging	Het
Retreg1	T	G	15: 25,971,825 (GRCm39)	L245R	probably damaging	Het
Rfc1	T	C	5: 65,434,729 (GRCm39)	N679S	probably benign	Het
Rpl4	C	T	9: 64,084,335 (GRCm39)	A220V	probably damaging	Het
Rxra	G	A	2: 27,638,668 (GRCm39)	E224K	possibly damaging	Het
Slc26a7	A	G	4: 14,516,159 (GRCm39)	C557R	possibly damaging	Het
Sncaip	A	G	18: 53,002,136 (GRCm39)	K219R	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sphkap	A	G	1: 83,234,978 (GRCm39)	V1616A	probably damaging	Het
Sulf1	T	C	1: 12,912,979 (GRCm39)	C738R	probably damaging	Het
Suz12	T	A	11: 79,892,998 (GRCm39)	C38*	probably null	Het
Ttn	T	C	2: 76,550,842 (GRCm39)	T23190A	probably damaging	Het
Twnk	A	G	19: 44,995,855 (GRCm39)	D96G	probably benign	Het
Vcan	T	A	13: 89,860,500 (GRCm39)	N289I	probably damaging	Het
Vmn2r120	A	T	17: 57,816,187 (GRCm39)	S723T	probably damaging	Het
Vmn2r97	A	T	17: 19,134,770 (GRCm39)	I63F	probably benign	Het
Washc5	T	C	15: 59,222,021 (GRCm39)	N125S	probably benign	Het
Zfp865	A	G	7: 5,033,548 (GRCm39)	Y511C	probably damaging	Het

Other mutations in Qki

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0165:Qki	UTSW	17	10,457,892 (GRCm39)	missense	probably damaging	1.00
R0268:Qki	UTSW	17	10,428,575 (GRCm39)	splice site	probably benign
R3963:Qki	UTSW	17	10,435,394 (GRCm39)	splice site	probably benign
R4732:Qki	UTSW	17	10,435,217 (GRCm39)	missense	probably damaging	0.98
R4733:Qki	UTSW	17	10,435,217 (GRCm39)	missense	probably damaging	0.98
R5153:Qki	UTSW	17	10,457,820 (GRCm39)	critical splice donor site	probably null
R5161:Qki	UTSW	17	10,434,419 (GRCm39)	splice site	probably null
R5368:Qki	UTSW	17	10,457,964 (GRCm39)	missense	probably damaging	0.98
R5833:Qki	UTSW	17	10,435,316 (GRCm39)	missense	probably damaging	1.00
R6466:Qki	UTSW	17	10,434,394 (GRCm39)	missense	probably benign
R8068:Qki	UTSW	17	10,537,732 (GRCm39)	missense	possibly damaging	0.57
R8474:Qki	UTSW	17	10,537,747 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GCTGCGGCTTTCTTTAAATGAAC -3'
(R):5'- TCCATACTACTGTGGACTAGATGACC -3'

Sequencing Primer
(F):5'- TCCTAGGAGTCAACAGCAGGC -3'
(R):5'- GACTAGATGACCACATACCAATTTAG -3'

Posted On

2018-10-18