Mutagenetix > Incidental Mutation

Incidental Mutation 'R6254:Prpf40a'

505951

Institutional Source

Beutler Lab

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

Fnbp3, FBP11, 2810012K09Rik

MMRRC Submission

044371-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53134704-53191284 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53157915 bp (GRCm38)

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	G	8: 13,706,043	D26G	possibly damaging	Het
Adam6b	A	T	12: 113,489,570	L2F	probably damaging	Het
Ank2	T	A	3: 126,941,804		probably benign	Het
Anpep	T	G	7: 79,839,233	D369A	probably damaging	Het
App	T	C	16: 84,978,177	E599G	probably damaging	Het
Asphd1	C	T	7: 126,948,868	V88I	probably benign	Het
Atad5	A	T	11: 80,127,389	I1389F	probably damaging	Het
Blm	T	C	7: 80,480,342	N950S	probably benign	Het
Bsn	A	T	9: 108,111,866	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,509,216	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,163		probably null	Het
Cdh1	T	A	8: 106,663,798	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,364,032	T160M	probably damaging	Het
Chrna5	A	G	9: 55,006,456	M325V	probably benign	Het
Clca3a2	A	G	3: 144,802,134	I116T	probably benign	Het
Cyp2c23	T	C	19: 44,005,463	K488R	probably benign	Het
Edil3	T	A	13: 89,319,729	I451N	probably damaging	Het
Exph5	T	G	9: 53,372,710	S364A	possibly damaging	Het
Fam84b	A	G	15: 60,823,801	I32T	probably damaging	Het
Fam98c	A	G	7: 29,154,517	S209P	probably damaging	Het
Fat3	G	A	9: 15,996,145	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,505,500		probably null	Het
Fermt2	T	C	14: 45,476,059	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,196,315		probably benign	Het
Fn3k	A	G	11: 121,435,068	E27G	probably damaging	Het
Foxj2	A	G	6: 122,838,139	H378R	probably damaging	Het
Fubp1	A	G	3: 152,232,408	K140E	possibly damaging	Het
Gm4788	A	G	1: 139,754,390	I156T	probably damaging	Het
Gm7694	A	T	1: 170,302,534	C98*	probably null	Het
Golgb1	T	C	16: 36,913,978	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,047,396		probably null	Het
Hltf	T	A	3: 20,063,829	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,695,270	R251H	probably benign	Het
Ipo7	T	A	7: 110,049,060	D688E	probably benign	Het
Itgal	T	A	7: 127,325,203	N897K	probably damaging	Het
Itsn2	A	G	12: 4,624,982		probably null	Het
Kcnk13	A	G	12: 99,965,372		probably benign	Het
Kdm7a	A	G	6: 39,170,269	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,349,874	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,275,912		probably benign	Het
Lingo1	T	A	9: 56,620,087	D406V	possibly damaging	Het
Lrriq1	A	T	10: 103,215,451	V480E	probably benign	Het
Mtcl1	C	T	17: 66,358,134	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,497,381	Q360*	probably null	Het
Muc6	T	C	7: 141,651,115	N252S	probably benign	Het
Naa20	T	C	2: 145,903,320	L4P	probably damaging	Het
Neb	T	A	2: 52,222,961	I4274L	probably benign	Het
Noa1	A	T	5: 77,309,669	F130I	probably benign	Het
Nrg4	G	T	9: 55,236,512	H87N	possibly damaging	Het
Olfr1024	T	A	2: 85,904,505	Y183F	probably damaging	Het
Olfr632	T	A	7: 103,937,534	H51Q	probably benign	Het
P3h3	C	T	6: 124,845,601	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,421,718	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,689,406	T71A	possibly damaging	Het
Plaur	T	A	7: 24,466,800	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,586,436	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,977,960	V614M	probably benign	Het
Ppp2r3a	T	C	9: 101,148,587	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,157,470	S28F	possibly damaging	Het
Ptk7	C	A	17: 46,572,642	Q832H	probably damaging	Het
Qser1	T	C	2: 104,790,090	S126G	probably benign	Het
Rab3ip	A	T	10: 116,915,867	C332S	probably damaging	Het
Raly	C	A	2: 154,857,366	T30K	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,867,224	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,584,309	T57I	probably benign	Het
Samd4	A	G	14: 47,016,631	D184G	probably damaging	Het
Slc35f3	T	C	8: 126,321,094	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,699,877	I1467T	probably damaging	Het
Spag17	T	G	3: 100,065,585	I1371S	probably benign	Het
Sptan1	T	C	2: 30,007,549	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,421,697	A344V	probably benign	Het
Supt16	A	G	14: 52,170,834	W885R	probably damaging	Het
Tdrd9	T	A	12: 112,025,900		probably null	Het
Tmod1	A	G	4: 46,078,469		probably null	Het
Tnfsf13	A	C	11: 69,684,483		probably null	Het
Trim75	C	A	8: 64,983,442	E119*	probably null	Het
Wdr6	T	C	9: 108,574,911	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,718,283	R137H	probably benign	Het
Ythdf1	T	A	2: 180,911,150	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,756,186	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,181,794	F743L	probably damaging	Het

Other mutations in Prpf40a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Prpf40a	APN	2	53150688	missense	probably benign	0.00
IGL00533:Prpf40a	APN	2	53145343	missense	probably damaging	1.00
IGL01099:Prpf40a	APN	2	53141835	missense	probably benign	0.00
IGL02039:Prpf40a	APN	2	53144803	missense	probably damaging	1.00
IGL02608:Prpf40a	APN	2	53146153	missense	probably damaging	0.97
I1329:Prpf40a	UTSW	2	53176395	missense	probably benign	0.01
R0284:Prpf40a	UTSW	2	53150647	missense	probably damaging	1.00
R0401:Prpf40a	UTSW	2	53159313	missense	probably damaging	0.99
R0544:Prpf40a	UTSW	2	53141651	unclassified	probably benign
R0582:Prpf40a	UTSW	2	53145692	missense	probably damaging	1.00
R1533:Prpf40a	UTSW	2	53145840	missense	probably damaging	1.00
R2057:Prpf40a	UTSW	2	53144839	missense	probably damaging	1.00
R4274:Prpf40a	UTSW	2	53146172	missense	probably damaging	1.00
R4604:Prpf40a	UTSW	2	53142023	missense	probably damaging	0.99
R4814:Prpf40a	UTSW	2	53190020	missense	probably damaging	1.00
R4976:Prpf40a	UTSW	2	53144849	missense	probably damaging	1.00
R5119:Prpf40a	UTSW	2	53144849	missense	probably damaging	1.00
R5378:Prpf40a	UTSW	2	53145876	missense	probably damaging	1.00
R5448:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5449:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5450:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5500:Prpf40a	UTSW	2	53145284	missense	probably benign	0.03
R5637:Prpf40a	UTSW	2	53156734	missense	possibly damaging	0.59
R6052:Prpf40a	UTSW	2	53159281	missense	probably benign	0.41
R6149:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6150:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6151:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6162:Prpf40a	UTSW	2	53159305	missense	probably benign	0.01
R6199:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6200:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6207:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6266:Prpf40a	UTSW	2	53156627	missense	probably benign	0.17
R6394:Prpf40a	UTSW	2	53144878	missense	probably damaging	1.00
R6603:Prpf40a	UTSW	2	53152963	missense	probably damaging	0.96
R6606:Prpf40a	UTSW	2	53151751	missense	probably damaging	0.99
R6641:Prpf40a	UTSW	2	53141626	unclassified	probably benign
R6929:Prpf40a	UTSW	2	53144863	missense	possibly damaging	0.95
R7158:Prpf40a	UTSW	2	53152553	missense	probably damaging	0.99
R7401:Prpf40a	UTSW	2	53156947	missense	probably benign	0.01
R7675:Prpf40a	UTSW	2	53145636	missense	possibly damaging	0.89
R7750:Prpf40a	UTSW	2	53151745	missense	probably damaging	1.00
R7893:Prpf40a	UTSW	2	53156841	missense	probably benign	0.24
R8027:Prpf40a	UTSW	2	53191138	missense	probably benign	0.01
R8817:Prpf40a	UTSW	2	53152959	missense	probably damaging	0.99
R8829:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R8964:Prpf40a	UTSW	2	53145894	missense	probably damaging	1.00
R9101:Prpf40a	UTSW	2	53145243	missense	probably benign	0.07
R9411:Prpf40a	UTSW	2	53139188	missense	unknown
X0060:Prpf40a	UTSW	2	53145664	missense	probably damaging	0.96
Z1176:Prpf40a	UTSW	2	53144875	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCGTAAGGCTCAGGAAGTC -3'
(R):5'- GCATTGAGGCTTTGAAACTCAAG -3'

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

Posted On

2018-02-28