Mutagenetix > Incidental Mutation

Incidental Mutation 'R0582:Prpf40a'

56450

Institutional Source

Beutler Lab

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

Fnbp3, FBP11, 2810012K09Rik

MMRRC Submission

038772-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53134704-53191284 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53145692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 695 (F695L)

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: F695L

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

SMART Domains

Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: F695L

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: F668L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210789
AA Change: F653L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000211712

Meta Mutation Damage Score

0.2947

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,125,082		noncoding transcript	Het
Abcb5	A	T	12: 118,940,412	M186K	probably benign	Het
Afm	T	C	5: 90,524,780		probably benign	Het
Arfgef3	G	A	10: 18,611,290	A1332V	probably damaging	Het
Atp11a	T	C	8: 12,831,214	S451P	probably benign	Het
Birc6	T	A	17: 74,643,337	V3189E	probably damaging	Het
Ccdc150	C	T	1: 54,329,511	A626V	probably benign	Het
Ccdc50	G	A	16: 27,444,659		probably benign	Het
Cntln	T	C	4: 84,884,741	S93P	probably damaging	Het
Ctnna2	C	A	6: 77,758,417	V106L	probably benign	Het
Ctnnal1	G	C	4: 56,813,228	Q668E	probably damaging	Het
Cyp1a2	G	A	9: 57,680,246		probably benign	Het
Dnah8	A	G	17: 30,718,961	D1604G	probably benign	Het
Dscaml1	A	T	9: 45,668,264	I370F	possibly damaging	Het
Ears2	T	C	7: 122,055,658	E129G	probably benign	Het
Gm4981	A	T	10: 58,235,686	S235R	probably benign	Het
Igsf10	T	C	3: 59,319,767	I2162V	probably benign	Het
Ints9	C	T	14: 64,980,149	P42S	probably damaging	Het
Ipp	T	C	4: 116,515,467	L231S	probably damaging	Het
Lyn	T	A	4: 3,743,296	L72Q	probably damaging	Het
Nfe2l2	T	A	2: 75,676,768	E329D	probably damaging	Het
Olfr628	G	A	7: 103,732,673	C249Y	possibly damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pdyn	A	C	2: 129,689,738	L44R	probably damaging	Het
Pkd1l1	A	G	11: 8,931,699		probably benign	Het
Rnf217	A	G	10: 31,608,767	Y140H	possibly damaging	Het
Sema6c	C	T	3: 95,169,197	R265C	probably damaging	Het
Slc7a8	C	A	14: 54,758,444	C167F	probably damaging	Het
Snap47	A	T	11: 59,428,433	L293*	probably null	Het
Snx3	A	T	10: 42,533,280		probably benign	Het
Sycp2l	T	A	13: 41,137,955		probably benign	Het
Taar3	A	G	10: 23,949,817	Y87C	probably damaging	Het
Tm4sf4	T	C	3: 57,433,857		probably benign	Het
Tssc4	T	C	7: 143,070,509	S185P	probably damaging	Het
Ttc28	G	T	5: 111,183,296	A430S	probably damaging	Het
Vmn2r27	T	C	6: 124,224,290	D236G	probably benign	Het
Vps54	G	T	11: 21,300,137	D508Y	probably damaging	Het
Wdr53	G	A	16: 32,251,908	V24M	probably damaging	Het
Xirp2	T	G	2: 67,508,866	L484V	probably benign	Het
Zfyve26	T	C	12: 79,246,222	D2051G	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
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
R6254: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
R9699:Prpf40a	UTSW	2	53145723	missense	probably benign	0.02
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'- ACGGGCTTCTGCCTTTTCTAGTAAC -3'
(R):5'- CAGCCGGGTGAGATTCCTTTCTTTC -3'

Sequencing Primer
(F):5'- GATGAGTCCTGTTTCAAACAAGAC -3'
(R):5'- TCCAAGCATACCTTAGGAGTTG -3'

Posted On

2013-07-11