Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00533:Prpf40a'

7207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

2810012K09Rik, FBP11, Fnbp3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00533

Quality Score

Status

Chromosome

Chromosomal Location

53024714-53081450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53035355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 729 (R729C)

Ref Sequence

ENSEMBL: ENSMUSP00000075655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000209364] [ENSMUST00000210789] [ENSMUST00000211712]

AlphaFold

Q9R1C7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076313
AA Change: R729C

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

SMART Domains

Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: R729C

Domain	Start	End	E-Value	Type
low complexity region	77	124	N/A	INTRINSIC
WW	141	173	7.54e-13	SMART
WW	182	214	1.57e-10	SMART
low complexity region	272	294	N/A	INTRINSIC
FF	389	443	1.32e-17	SMART
FF	456	515	4.22e1	SMART
FF	523	583	1.11e-10	SMART
FF	603	663	4.31e0	SMART
low complexity region	670	682	N/A	INTRINSIC
FF	739	795	7.43e-12	SMART
low complexity region	802	879	N/A	INTRINSIC
low complexity region	883	923	N/A	INTRINSIC
low complexity region	929	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133384

Predicted Effect

probably damaging
Transcript: ENSMUST00000209364
AA Change: R702C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210789
AA Change: R687C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000211712

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,958,293 (GRCm39)	L175Q	probably damaging	Het
Akna	A	T	4: 63,316,110 (GRCm39)		probably null	Het
Arhgef38	C	T	3: 132,822,220 (GRCm39)	W181*	probably null	Het
Gm5581	A	T	6: 131,144,604 (GRCm39)		noncoding transcript	Het
Hyls1	G	T	9: 35,473,220 (GRCm39)	Y65*	probably null	Het
Map1b	A	G	13: 99,569,112 (GRCm39)	I1203T	unknown	Het
Met	C	T	6: 17,534,936 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,338,552 (GRCm39)	T1065A	probably damaging	Het
Proser3	A	G	7: 30,240,096 (GRCm39)	V336A	possibly damaging	Het
Ptprk	A	G	10: 28,461,971 (GRCm39)	E1152G	probably damaging	Het
Scn11a	A	C	9: 119,603,447 (GRCm39)	D1073E	probably damaging	Het
Spsb3	C	T	17: 25,109,539 (GRCm39)		probably benign	Het

Other mutations in Prpf40a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Prpf40a	APN	2	53,040,700 (GRCm39)	missense	probably benign	0.00
IGL01099:Prpf40a	APN	2	53,031,847 (GRCm39)	missense	probably benign	0.00
IGL02039:Prpf40a	APN	2	53,034,815 (GRCm39)	missense	probably damaging	1.00
IGL02608:Prpf40a	APN	2	53,036,165 (GRCm39)	missense	probably damaging	0.97
I1329:Prpf40a	UTSW	2	53,066,407 (GRCm39)	missense	probably benign	0.01
R0284:Prpf40a	UTSW	2	53,040,659 (GRCm39)	missense	probably damaging	1.00
R0401:Prpf40a	UTSW	2	53,049,325 (GRCm39)	missense	probably damaging	0.99
R0544:Prpf40a	UTSW	2	53,031,663 (GRCm39)	unclassified	probably benign
R0582:Prpf40a	UTSW	2	53,035,704 (GRCm39)	missense	probably damaging	1.00
R1533:Prpf40a	UTSW	2	53,035,852 (GRCm39)	missense	probably damaging	1.00
R2057:Prpf40a	UTSW	2	53,034,851 (GRCm39)	missense	probably damaging	1.00
R4274:Prpf40a	UTSW	2	53,036,184 (GRCm39)	missense	probably damaging	1.00
R4604:Prpf40a	UTSW	2	53,032,035 (GRCm39)	missense	probably damaging	0.99
R4814:Prpf40a	UTSW	2	53,080,032 (GRCm39)	missense	probably damaging	1.00
R4976:Prpf40a	UTSW	2	53,034,861 (GRCm39)	missense	probably damaging	1.00
R5119:Prpf40a	UTSW	2	53,034,861 (GRCm39)	missense	probably damaging	1.00
R5378:Prpf40a	UTSW	2	53,035,888 (GRCm39)	missense	probably damaging	1.00
R5448:Prpf40a	UTSW	2	53,046,938 (GRCm39)	missense	possibly damaging	0.63
R5449:Prpf40a	UTSW	2	53,046,938 (GRCm39)	missense	possibly damaging	0.63
R5450:Prpf40a	UTSW	2	53,046,938 (GRCm39)	missense	possibly damaging	0.63
R5500:Prpf40a	UTSW	2	53,035,296 (GRCm39)	missense	probably benign	0.03
R5637:Prpf40a	UTSW	2	53,046,746 (GRCm39)	missense	possibly damaging	0.59
R6052:Prpf40a	UTSW	2	53,049,293 (GRCm39)	missense	probably benign	0.41
R6149:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6150:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6151:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6162:Prpf40a	UTSW	2	53,049,317 (GRCm39)	missense	probably benign	0.01
R6199:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6200:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6207:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6254:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R6266:Prpf40a	UTSW	2	53,046,639 (GRCm39)	missense	probably benign	0.17
R6394:Prpf40a	UTSW	2	53,034,890 (GRCm39)	missense	probably damaging	1.00
R6603:Prpf40a	UTSW	2	53,042,975 (GRCm39)	missense	probably damaging	0.96
R6606:Prpf40a	UTSW	2	53,041,763 (GRCm39)	missense	probably damaging	0.99
R6641:Prpf40a	UTSW	2	53,031,638 (GRCm39)	unclassified	probably benign
R6929:Prpf40a	UTSW	2	53,034,875 (GRCm39)	missense	possibly damaging	0.95
R7158:Prpf40a	UTSW	2	53,042,565 (GRCm39)	missense	probably damaging	0.99
R7401:Prpf40a	UTSW	2	53,046,959 (GRCm39)	missense	probably benign	0.01
R7675:Prpf40a	UTSW	2	53,035,648 (GRCm39)	missense	possibly damaging	0.89
R7750:Prpf40a	UTSW	2	53,041,757 (GRCm39)	missense	probably damaging	1.00
R7893:Prpf40a	UTSW	2	53,046,853 (GRCm39)	missense	probably benign	0.24
R8027:Prpf40a	UTSW	2	53,081,150 (GRCm39)	missense	probably benign	0.01
R8817:Prpf40a	UTSW	2	53,042,971 (GRCm39)	missense	probably damaging	0.99
R8829:Prpf40a	UTSW	2	53,047,927 (GRCm39)	missense	probably benign	0.07
R8964:Prpf40a	UTSW	2	53,035,906 (GRCm39)	missense	probably damaging	1.00
R9101:Prpf40a	UTSW	2	53,035,255 (GRCm39)	missense	probably benign	0.07
R9411:Prpf40a	UTSW	2	53,029,200 (GRCm39)	missense	unknown
R9699:Prpf40a	UTSW	2	53,035,735 (GRCm39)	missense	probably benign	0.02
X0060:Prpf40a	UTSW	2	53,035,676 (GRCm39)	missense	probably damaging	0.96
Z1176:Prpf40a	UTSW	2	53,034,887 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20