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

2810012K09Rik, FBP11, Fnbp3

MMRRC Submission

044371-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

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: 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
Adam6b	A	T	12: 113,453,190 (GRCm39)	L2F	probably damaging	Het
Ank2	T	A	3: 126,735,453 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,981 (GRCm39)	D369A	probably damaging	Het
App	T	C	16: 84,775,065 (GRCm39)	E599G	probably damaging	Het
Asphd1	C	T	7: 126,548,040 (GRCm39)	V88I	probably benign	Het
Atad5	A	T	11: 80,018,215 (GRCm39)	I1389F	probably damaging	Het
Blm	T	C	7: 80,130,090 (GRCm39)	N950S	probably benign	Het
Bsn	A	T	9: 107,989,065 (GRCm39)	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,386,415 (GRCm39)	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,162 (GRCm39)		probably null	Het
Cdh1	T	A	8: 107,390,430 (GRCm39)	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,282,269 (GRCm39)	T160M	probably damaging	Het
Cfap97d2	A	G	8: 13,756,043 (GRCm39)	D26G	possibly damaging	Het
Cfhr4	A	G	1: 139,682,128 (GRCm39)	I156T	probably damaging	Het
Chrna5	A	G	9: 54,913,740 (GRCm39)	M325V	probably benign	Het
Clca3a2	A	G	3: 144,507,895 (GRCm39)	I116T	probably benign	Het
Cyp2c23	T	C	19: 43,993,902 (GRCm39)	K488R	probably benign	Het
Edil3	T	A	13: 89,467,848 (GRCm39)	I451N	probably damaging	Het
Exph5	T	G	9: 53,284,010 (GRCm39)	S364A	possibly damaging	Het
Fam98c	A	G	7: 28,853,942 (GRCm39)	S209P	probably damaging	Het
Fat3	G	A	9: 15,907,441 (GRCm39)	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,638,571 (GRCm39)		probably null	Het
Fermt2	T	C	14: 45,713,516 (GRCm39)	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,087,141 (GRCm39)		probably benign	Het
Fn3k	A	G	11: 121,325,894 (GRCm39)	E27G	probably damaging	Het
Foxj2	A	G	6: 122,815,098 (GRCm39)	H378R	probably damaging	Het
Fubp1	A	G	3: 151,938,045 (GRCm39)	K140E	possibly damaging	Het
Gm7694	A	T	1: 170,130,103 (GRCm39)	C98*	probably null	Het
Golgb1	T	C	16: 36,734,340 (GRCm39)	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,500,431 (GRCm39)		probably null	Het
Hltf	T	A	3: 20,117,993 (GRCm39)	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,514,020 (GRCm39)	R251H	probably benign	Het
Ipo7	T	A	7: 109,648,267 (GRCm39)	D688E	probably benign	Het
Itgal	T	A	7: 126,924,375 (GRCm39)	N897K	probably damaging	Het
Itsn2	A	G	12: 4,674,982 (GRCm39)		probably null	Het
Kcnk13	A	G	12: 99,931,631 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,147,203 (GRCm39)	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,554,872 (GRCm39)	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,325,912 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,527,371 (GRCm39)	D406V	possibly damaging	Het
Lratd2	A	G	15: 60,695,650 (GRCm39)	I32T	probably damaging	Het
Lrriq1	A	T	10: 103,051,312 (GRCm39)	V480E	probably benign	Het
Mtcl1	C	T	17: 66,665,129 (GRCm39)	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,447,381 (GRCm39)	Q360*	probably null	Het
Muc6	T	C	7: 141,237,380 (GRCm39)	N252S	probably benign	Het
Naa20	T	C	2: 145,745,240 (GRCm39)	L4P	probably damaging	Het
Neb	T	A	2: 52,112,973 (GRCm39)	I4274L	probably benign	Het
Noa1	A	T	5: 77,457,516 (GRCm39)	F130I	probably benign	Het
Nrg4	G	T	9: 55,143,796 (GRCm39)	H87N	possibly damaging	Het
Or51ai2	T	A	7: 103,586,741 (GRCm39)	H51Q	probably benign	Het
Or5m12	T	A	2: 85,734,849 (GRCm39)	Y183F	probably damaging	Het
P3h3	C	T	6: 124,822,564 (GRCm39)	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,554,771 (GRCm39)	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,825,914 (GRCm39)	T71A	possibly damaging	Het
Plaur	T	A	7: 24,166,225 (GRCm39)	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,532,162 (GRCm39)	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,954,921 (GRCm39)	V614M	probably benign	Het
Ppp2r3d	T	C	9: 101,025,786 (GRCm39)	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,341,453 (GRCm39)	S28F	possibly damaging	Het
Ptk7	C	A	17: 46,883,568 (GRCm39)	Q832H	probably damaging	Het
Qser1	T	C	2: 104,620,435 (GRCm39)	S126G	probably benign	Het
Rab3ip	A	T	10: 116,751,772 (GRCm39)	C332S	probably damaging	Het
Raly	C	A	2: 154,699,286 (GRCm39)	T30K	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,594,535 (GRCm39)	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,732,168 (GRCm39)	T57I	probably benign	Het
Samd4	A	G	14: 47,254,088 (GRCm39)	D184G	probably damaging	Het
Slc35f3	T	C	8: 127,047,833 (GRCm39)	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,611,173 (GRCm39)	I1467T	probably damaging	Het
Spag17	T	G	3: 99,972,901 (GRCm39)	I1371S	probably benign	Het
Sptan1	T	C	2: 29,897,561 (GRCm39)	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,398,631 (GRCm39)	A344V	probably benign	Het
Supt16	A	G	14: 52,408,291 (GRCm39)	W885R	probably damaging	Het
Tdrd9	T	A	12: 111,992,334 (GRCm39)		probably null	Het
Tmod1	A	G	4: 46,078,469 (GRCm39)		probably null	Het
Tnfsf13	A	C	11: 69,575,309 (GRCm39)		probably null	Het
Trim75	C	A	8: 65,436,094 (GRCm39)	E119*	probably null	Het
Wdr6	T	C	9: 108,452,110 (GRCm39)	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,923,281 (GRCm39)	R137H	probably benign	Het
Ythdf1	T	A	2: 180,552,943 (GRCm39)	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,840,643 (GRCm39)	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,038,991 (GRCm39)	F743L	probably damaging	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
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'- CTCGTAAGGCTCAGGAAGTC -3'
(R):5'- GCATTGAGGCTTTGAAACTCAAG -3'

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

Posted On

2018-02-28