Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Prpf40a'

489225

Institutional Source

Beutler Lab

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

Fnbp3, FBP11, 2810012K09Rik

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not 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: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,681	C248S	probably damaging	Het
3110009E18Rik	A	G	1: 120,171,486		probably null	Het
4930550C14Rik	G	T	9: 53,414,383	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480		probably null	Het
Eprs	G	T	1: 185,407,754		probably null	Het
Etl4	T	A	2: 20,713,360	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745	S89*	probably null	Het
F5	A	T	1: 164,181,635	I325F	probably damaging	Het
F5	G	A	1: 164,190,187	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,559,133	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271	Q469K	unknown	Het
Frs3	A	T	17: 47,689,088		probably benign	Het
Gdpd3	A	G	7: 126,775,502	S290G	probably benign	Het
Gm6768	T	G	12: 119,261,106		noncoding transcript	Het
Gmip	T	A	8: 69,817,085	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757	L2Q	probably damaging	Het
Hrasls5	C	T	19: 7,619,291	P148S	probably damaging	Het
Hspbap1	T	C	16: 35,817,222	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116	F3L	unknown	Het
Madd	A	C	2: 91,165,457	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,669,025		probably null	Het
Mpp3	C	A	11: 102,008,566	R376S	probably benign	Het
Nup160	T	A	2: 90,690,105	Y293*	probably null	Het
Nupl1	A	T	14: 60,244,616	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191	L255V	probably benign	Het
Olfr1423	T	C	19: 12,036,736	E2G	probably benign	Het
Olfr167	A	T	16: 19,515,531	L35Q	probably damaging	Het
Olfr390	T	A	11: 73,787,695	Y252*	probably null	Het
Olfr479	A	G	7: 108,055,899	I306V	probably benign	Het
Padi3	A	T	4: 140,796,394	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606	H2089R	probably benign	Het
Rhebl1	T	C	15: 98,878,279	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,317,390	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207	I1242S	probably damaging	Het
Tap2	G	T	17: 34,212,047	V374L	probably benign	Het
Tbc1d10b	G	A	7: 127,207,996	T123M	probably damaging	Het
Tenm2	A	C	11: 36,008,783	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550	S433N	probably benign	Het
Traip	G	T	9: 107,970,619		probably null	Het
Trmo	G	A	4: 46,389,390	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960		probably null	Het
Ugdh	A	T	5: 65,417,581	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465		probably null	Het
Vwf	A	G	6: 125,657,065	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710		probably null	Het
Zfp458	T	A	13: 67,257,598	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910	V1051A	probably benign	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
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'- ACTCGTAAGGCTCAGGAAGTC -3'
(R):5'- TGCATTGAGGCTTTGAAACTCAAG -3'

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

Posted On

2017-10-10