Mutagenetix > Incidental Mutation

Incidental Mutation 'R8829:Prpf40a'

673654

Institutional Source

Beutler Lab

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

2810012K09Rik, FBP11, Fnbp3

MMRRC Submission

068731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53024714-53081450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53047927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 197 (M197V)

Ref Sequence

ENSEMBL: ENSMUSP00000147599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000209508] [ENSMUST00000210789] [ENSMUST00000211102] [ENSMUST00000211712]

AlphaFold

Q9R1C7

Predicted Effect

probably benign
Transcript: ENSMUST00000076313
AA Change: M239V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: M239V

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

probably benign
Transcript: ENSMUST00000125243

SMART Domains

Protein: ENSMUSP00000117406
Gene: ENSMUSG00000061136

Domain	Start	End	E-Value	Type
low complexity region	35	82	N/A	INTRINSIC
WW	99	131	7.54e-13	SMART
WW	140	172	1.57e-10	SMART
low complexity region	230	252	N/A	INTRINSIC
FF	347	401	1.32e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209508

Predicted Effect

probably benign
Transcript: ENSMUST00000210789
AA Change: M197V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000211102

Predicted Effect

probably benign
Transcript: ENSMUST00000211712

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	T	3: 59,939,240 (GRCm39)	I5F	probably benign	Het
Abca13	A	T	11: 9,571,881 (GRCm39)	D4814V	probably damaging	Het
Adgrl1	A	G	8: 84,665,458 (GRCm39)	N1382D		Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
B3galt9	T	A	2: 34,728,634 (GRCm39)	N144K	probably benign	Het
Bach2	A	T	4: 32,562,028 (GRCm39)	E165V	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Ccpg1	A	T	9: 72,917,633 (GRCm39)	D255V	probably benign	Het
Cdhr2	A	T	13: 54,865,930 (GRCm39)	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,042,920 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,717,582 (GRCm39)	D2216G	probably benign	Het
Cenpu	T	C	8: 47,026,496 (GRCm39)	L294P	probably damaging	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Ctnna2	G	A	6: 77,582,205 (GRCm39)	R352*	probably null	Het
D630003M21Rik	C	A	2: 158,058,856 (GRCm39)	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,294,051 (GRCm39)	Q236*	probably null	Het
Ddx60	T	G	8: 62,393,695 (GRCm39)	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Frem1	T	C	4: 82,918,431 (GRCm39)	R504G	probably damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gprc6a	A	C	10: 51,491,295 (GRCm39)	I818R	probably damaging	Het
Hcfc2	T	C	10: 82,574,179 (GRCm39)	Y118H	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Htr1d	A	T	4: 136,170,554 (GRCm39)	H261L	probably benign	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Ighv1-63	A	G	12: 115,459,534 (GRCm39)	V21A	probably benign	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Knstrn	C	T	2: 118,654,222 (GRCm39)	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,214,084 (GRCm39)	K22N	probably damaging	Het
Mpo	T	A	11: 87,694,250 (GRCm39)	F660Y	probably damaging	Het
Myb	A	T	10: 21,021,130 (GRCm39)	L433H	probably damaging	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Ncoa3	A	G	2: 165,892,068 (GRCm39)	Y148C	probably damaging	Het
Nktr	T	A	9: 121,583,330 (GRCm39)	S1432T	unknown	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or6x1	T	A	9: 40,099,209 (GRCm39)	F266Y	probably benign	Het
Or8d23	G	T	9: 38,842,190 (GRCm39)	C241F	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pcx	A	G	19: 4,651,968 (GRCm39)	D72G	probably damaging	Het
Pebp4	A	G	14: 70,285,916 (GRCm39)	D193G	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Piezo1	A	C	8: 123,217,753 (GRCm39)	M1265R		Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Ptger3	A	G	3: 157,273,423 (GRCm39)	T257A	probably damaging	Het
Relt	T	A	7: 100,499,479 (GRCm39)	S147C	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,313,961 (GRCm39)	D1919V	probably benign	Het
Septin8	G	A	11: 53,422,865 (GRCm39)	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,443,257 (GRCm39)	I19V	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Syne1	T	C	10: 5,058,685 (GRCm39)	E7276G	probably benign	Het
Syt1	C	A	10: 108,478,193 (GRCm39)	C77F	probably benign	Het
Tcf20	T	A	15: 82,739,915 (GRCm39)	K512M	probably damaging	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trank1	T	C	9: 111,176,591 (GRCm39)	S288P	probably benign	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Ttbk1	C	A	17: 46,757,821 (GRCm39)	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,192,344 (GRCm39)	Y418*	probably null	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
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
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'- CTCGTAAGGCTCAGGAAGTC -3'
(R):5'- TGCATTGAGGCTTTGAAACTCAAG -3'

Sequencing Primer
(F):5'- CAACATACGCAAGGCTGTGGTTC -3'
(R):5'- GTAAATACTTGCACTTTAAAGCGAG -3'

Posted On

2021-07-15