Mutagenetix > Incidental Mutation

Incidental Mutation 'R5710:Shfl'

452171

Institutional Source

Beutler Lab

Gene Symbol

Shfl

Ensembl Gene

ENSMUSG00000038884

Gene Name

shiftless antiviral inhibitor of ribosomal frameshifting

Synonyms

A230050P20Rik

MMRRC Submission

044396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5710 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20779938-20785603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20784192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 138 (R138L)

Ref Sequence

ENSEMBL: ENSMUSP00000045384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043726] [ENSMUST00000043911]

AlphaFold

Q8CAK3

Predicted Effect

probably benign
Transcript: ENSMUST00000043726

SMART Domains

Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	51	77	N/A	INTRINSIC
coiled coil region	126	164	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
FBG	242	455	7.15e-88	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043911
AA Change: R138L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045384
Gene: ENSMUSG00000038884
AA Change: R138L

Domain	Start	End	E-Value	Type
Pfam:UPF0515	16	272	1.3e-127	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177067

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	G	A	14: 68,847,357 (GRCm39)	H713Y	probably damaging	Het
Adam39	A	T	8: 41,277,684 (GRCm39)	Y25F	probably benign	Het
Ankfn1	T	C	11: 89,394,751 (GRCm39)	N278S	probably benign	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap18	G	A	10: 26,736,729 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,081,732 (GRCm39)	Q107P	probably benign	Het
Btbd9	A	G	17: 30,447,842 (GRCm39)	S525P	probably benign	Het
Cabin1	A	G	10: 75,482,852 (GRCm39)	S2093P	probably benign	Het
Ccnd1	T	C	7: 144,491,781 (GRCm39)	D86G	possibly damaging	Het
Chdh	C	A	14: 29,756,584 (GRCm39)	Q337K	probably damaging	Het
Cldn9	T	C	17: 23,902,421 (GRCm39)	D68G	probably damaging	Het
Cpt1b	T	A	15: 89,309,409 (GRCm39)	K41N	probably damaging	Het
Dsg1c	T	C	18: 20,405,408 (GRCm39)	Y274H	probably benign	Het
Eif2ak3	T	A	6: 70,860,717 (GRCm39)	I431N	probably damaging	Het
Erbb2	T	A	11: 98,317,906 (GRCm39)	W416R	probably damaging	Het
Fgd3	T	A	13: 49,450,205 (GRCm39)	I15F	probably benign	Het
Fkbp14	T	A	6: 54,566,255 (GRCm39)		probably null	Het
Havcr1	T	C	11: 46,643,353 (GRCm39)	V91A	probably damaging	Het
Kmt2d	T	C	15: 98,751,987 (GRCm39)		probably benign	Het
Lipc	T	A	9: 70,719,979 (GRCm39)	I343F	probably benign	Het
Madd	T	C	2: 90,984,821 (GRCm39)	T1331A	probably damaging	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Mdga2	C	A	12: 66,553,556 (GRCm39)	L98F	probably damaging	Het
Micall1	C	A	15: 79,011,290 (GRCm39)	H553Q	probably damaging	Het
Mxd4	A	G	5: 34,344,671 (GRCm39)		probably null	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Prtg	T	A	9: 72,716,922 (GRCm39)	Y88N	probably damaging	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Sclt1	C	A	3: 41,618,398 (GRCm39)	E14*	probably null	Het
Strn	G	A	17: 78,995,028 (GRCm39)	L162F	probably damaging	Het
T	T	C	17: 8,660,474 (GRCm39)	S221P	probably benign	Het
Tbl1xr1	A	G	3: 22,264,578 (GRCm39)	D511G	probably damaging	Het
Ttc7	A	C	17: 87,597,674 (GRCm39)	N82T	probably damaging	Het
Ttn	C	T	2: 76,747,786 (GRCm39)	R4421H	possibly damaging	Het
Uaca	T	A	9: 60,779,093 (GRCm39)	L1158Q	probably damaging	Het
Vdr	T	C	15: 97,757,008 (GRCm39)	Y288C	probably damaging	Het
Vdr	A	T	15: 97,765,089 (GRCm39)	S217T	probably benign	Het
Zhx2	T	A	15: 57,684,866 (GRCm39)	Y78*	probably null	Het
Znhit1	C	T	5: 137,011,456 (GRCm39)	C119Y	probably damaging	Het

Other mutations in Shfl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0669:Shfl	UTSW	9	20,785,013 (GRCm39)	small deletion	probably benign
R0943:Shfl	UTSW	9	20,784,258 (GRCm39)	missense	possibly damaging	0.81
R1500:Shfl	UTSW	9	20,785,013 (GRCm39)	small deletion	probably benign
R2483:Shfl	UTSW	9	20,784,473 (GRCm39)	missense	possibly damaging	0.93
R2848:Shfl	UTSW	9	20,784,868 (GRCm39)	missense	probably damaging	0.98
R3055:Shfl	UTSW	9	20,785,013 (GRCm39)	small deletion	probably benign
R5089:Shfl	UTSW	9	20,780,212 (GRCm39)	start codon destroyed	probably benign	0.02
R7720:Shfl	UTSW	9	20,780,155 (GRCm39)	start gained	probably benign
R7726:Shfl	UTSW	9	20,784,461 (GRCm39)	missense	possibly damaging	0.89
R7863:Shfl	UTSW	9	20,782,672 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- GGCTTCCTAACCTCTTGATTACTAGTG -3'
(R):5'- GATTGTAGCAATCTGCAGCTGAG -3'

Sequencing Primer
(F):5'- AGCATTCATGAAGCCATCGGTTC -3'
(R):5'- GTACACAGGGAAGCCGCAC -3'

Posted On

2017-01-03