Mutagenetix > Incidental Mutation

Incidental Mutation 'R2057:Prpf40a'

228241

Institutional Source

Beutler Lab

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

2810012K09Rik, FBP11, Fnbp3

MMRRC Submission

040062-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2057 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53024714-53081450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53034851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 779 (I779K)

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: I779K

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

SMART Domains

Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: I779K

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: I752K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210789
AA Change: I737K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211712

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,806,477 (GRCm39)	K764E	probably damaging	Het
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apob	A	T	12: 8,052,164 (GRCm39)	R1202*	probably null	Het
Arfgap3	G	T	15: 83,194,501 (GRCm39)	D389E	probably benign	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atoh8	T	C	6: 72,212,112 (GRCm39)	K13E	probably damaging	Het
Bicral	G	T	17: 47,135,814 (GRCm39)	N465K	possibly damaging	Het
Bves	T	A	10: 45,219,231 (GRCm39)	Y110N	probably damaging	Het
C4b	A	G	17: 34,947,594 (GRCm39)	Y1695H	probably damaging	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Caskin1	G	T	17: 24,715,433 (GRCm39)	G93V	probably damaging	Het
Cd34	T	C	1: 194,641,450 (GRCm39)	V292A	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdh16	C	A	8: 105,348,597 (GRCm39)	G144*	probably null	Het
Chaf1b	T	A	16: 93,691,795 (GRCm39)	H280Q	probably damaging	Het
Chpf2	G	A	5: 24,796,220 (GRCm39)	G389R	probably damaging	Het
Crb1	T	C	1: 139,242,488 (GRCm39)	Y330C	probably damaging	Het
Cux2	A	T	5: 122,007,567 (GRCm39)	V698E	probably benign	Het
Dhtkd1	A	G	2: 5,947,430 (GRCm39)	V18A	unknown	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Enpp1	C	G	10: 24,536,090 (GRCm39)	A437P	probably damaging	Het
Fat2	C	T	11: 55,172,686 (GRCm39)	V2676I	possibly damaging	Het
Fzd2	A	G	11: 102,496,759 (GRCm39)	D401G	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gnai3	C	T	3: 108,019,812 (GRCm39)	V233I	probably benign	Het
Golim4	T	A	3: 75,802,194 (GRCm39)	D366V	possibly damaging	Het
Grin1	T	A	2: 25,206,832 (GRCm39)	T110S	probably damaging	Het
Grin2a	A	G	16: 9,487,608 (GRCm39)	V430A	probably benign	Het
Gstp3	G	A	19: 4,109,282 (GRCm39)	T5I	probably damaging	Het
Il17rb	T	A	14: 29,719,111 (GRCm39)	M324L	probably benign	Het
Jmy	A	G	13: 93,596,211 (GRCm39)	Y473H	probably damaging	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Lmo7	G	C	14: 102,124,614 (GRCm39)	A358P	probably damaging	Het
Mdh1b	T	C	1: 63,760,741 (GRCm39)	I107V	probably benign	Het
Mlkl	T	C	8: 112,060,242 (GRCm39)	Q48R	probably benign	Het
Myh2	G	A	11: 67,079,665 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,562,081 (GRCm39)	Q1028L	probably damaging	Het
Ncald	T	A	15: 37,397,423 (GRCm39)	I86F	possibly damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Or1p1	A	G	11: 74,179,652 (GRCm39)	Y60C	probably damaging	Het
Or9r3	A	T	10: 129,947,859 (GRCm39)	S267T	probably benign	Het
Pak1	T	A	7: 97,557,004 (GRCm39)		probably null	Het
Parpbp	T	A	10: 87,960,824 (GRCm39)	M221L	probably benign	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Phf19	G	T	2: 34,789,620 (GRCm39)	R367S	probably benign	Het
Plcl2	A	G	17: 50,975,139 (GRCm39)		probably null	Het
Plxnb1	A	T	9: 108,938,294 (GRCm39)	I1283F	possibly damaging	Het
Pramel6	T	A	2: 87,339,059 (GRCm39)	N86K	possibly damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptpn20	A	T	14: 33,352,942 (GRCm39)	E227V	probably damaging	Het
Rad54b	C	T	4: 11,606,088 (GRCm39)	R499C	probably benign	Het
Rarg	C	A	15: 102,147,939 (GRCm39)	A291S	probably damaging	Het
Rnf169	A	T	7: 99,574,615 (GRCm39)	L660Q	probably damaging	Het
Scn4a	A	G	11: 106,226,550 (GRCm39)	V670A	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc35g2	G	A	9: 100,435,329 (GRCm39)	A114V	probably damaging	Het
Slc7a14	A	T	3: 31,291,645 (GRCm39)	V211E	probably damaging	Het
Snrpn	A	T	7: 59,637,204 (GRCm39)	H37Q	possibly damaging	Het
Spock3	T	A	8: 63,698,204 (GRCm39)	C185*	probably null	Het
Tbc1d4	A	G	14: 101,714,591 (GRCm39)	S627P	probably damaging	Het
Tgoln1	T	C	6: 72,592,653 (GRCm39)	T276A	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tnpo2	T	C	8: 85,776,742 (GRCm39)	L483P	probably damaging	Het
Tpte	T	A	8: 22,808,355 (GRCm39)	D163E	probably benign	Het
Trim36	A	T	18: 46,329,229 (GRCm39)	D70E	probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Wdr90	T	C	17: 26,074,173 (GRCm39)	T691A	probably benign	Het
Zdhhc8	A	G	16: 18,046,210 (GRCm39)	S118P	probably damaging	Het
Zfp438	T	C	18: 5,214,085 (GRCm39)	E291G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	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
IGL00533:Prpf40a	APN	2	53,035,355 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGAATTCCTGCACCTAGGAAC -3'
(R):5'- GCCACACCCTGCTAGAACTATTG -3'

Sequencing Primer
(F):5'- TGACACTATCTTTAATAGCCCCTG -3'
(R):5'- CACCCTGCTAGAACTATTGAAGGAG -3'

Posted On

2014-09-17