Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Prob1'

34814

Institutional Source

Beutler Lab

Gene Symbol

Prob1

Ensembl Gene

ENSMUSG00000073600

Gene Name

proline rich basic protein 1

Synonyms

LOC381148, Gm1614

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0257 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

35650351-35655238 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35653039 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 721 (K721E)

Ref Sequence

ENSEMBL: ENSMUSP00000140465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000025211] [ENSMUST00000097619] [ENSMUST00000190196]

Predicted Effect

probably benign
Transcript: ENSMUST00000025209

SMART Domains

Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352

Domain	Start	End	E-Value	Type
Pfam:SPATA24	10	191	1.5e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025211

SMART Domains

Protein: ENSMUSP00000025211
Gene: ENSMUSG00000024353

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:DUF3456	48	177	5.8e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097619
AA Change: K717E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: K717E

Domain	Start	End	E-Value	Type
low complexity region	78	102	N/A	INTRINSIC
low complexity region	142	155	N/A	INTRINSIC
low complexity region	207	223	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	536	553	N/A	INTRINSIC
low complexity region	829	848	N/A	INTRINSIC
Pfam:DUF4585	862	931	4.6e-27	PFAM
low complexity region	989	1002	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186951

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190196
AA Change: K721E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: K721E

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
low complexity region	146	159	N/A	INTRINSIC
low complexity region	211	227	N/A	INTRINSIC
low complexity region	381	400	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
low complexity region	833	852	N/A	INTRINSIC
Pfam:DUF4585	864	936	7.5e-27	PFAM
low complexity region	993	1006	N/A	INTRINSIC

Meta Mutation Damage Score

0.1149

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Prob1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Prob1	APN	18	35653333	missense	possibly damaging	0.91
IGL02352:Prob1	APN	18	35652840	missense	possibly damaging	0.53
IGL02359:Prob1	APN	18	35652840	missense	possibly damaging	0.53
IGL02823:Prob1	APN	18	35652747	missense	possibly damaging	0.86
IGL03003:Prob1	APN	18	35653375	missense	possibly damaging	0.73
IGL03390:Prob1	APN	18	35654139	missense	probably benign	0.03
R0421:Prob1	UTSW	18	35653030	missense	possibly damaging	0.70
R0457:Prob1	UTSW	18	35652486	missense	probably damaging	0.98
R0485:Prob1	UTSW	18	35653825	missense	possibly damaging	0.53
R0575:Prob1	UTSW	18	35654721	missense	possibly damaging	0.85
R1056:Prob1	UTSW	18	35653610	missense	probably benign
R1147:Prob1	UTSW	18	35654806	nonsense	probably null
R1334:Prob1	UTSW	18	35653252	missense	possibly damaging	0.53
R1727:Prob1	UTSW	18	35654311	missense	possibly damaging	0.73
R1753:Prob1	UTSW	18	35653252	missense	possibly damaging	0.53
R1826:Prob1	UTSW	18	35653575	missense	possibly damaging	0.72
R1895:Prob1	UTSW	18	35652889	missense	possibly damaging	0.53
R1937:Prob1	UTSW	18	35654226	missense	possibly damaging	0.53
R2170:Prob1	UTSW	18	35654737	missense	probably benign	0.18
R3435:Prob1	UTSW	18	35654241	missense	possibly damaging	0.72
R4749:Prob1	UTSW	18	35652816	missense	possibly damaging	0.91
R4968:Prob1	UTSW	18	35652552	missense	probably damaging	0.98
R5107:Prob1	UTSW	18	35652936	missense	possibly damaging	0.53
R5602:Prob1	UTSW	18	35654026	missense	possibly damaging	0.96
R5646:Prob1	UTSW	18	35654114	missense	probably benign	0.18
R6035:Prob1	UTSW	18	35654782	missense	probably benign	0.18
R6747:Prob1	UTSW	18	35655154	missense	probably damaging	0.97
R6954:Prob1	UTSW	18	35654268	missense	probably benign
R7061:Prob1	UTSW	18	35654500	missense	probably benign	0.18
R7292:Prob1	UTSW	18	35654550	missense	possibly damaging	0.93
R7296:Prob1	UTSW	18	35653299	missense	possibly damaging	0.53
R7566:Prob1	UTSW	18	35654985	missense	probably benign	0.33
R7723:Prob1	UTSW	18	35652889	missense	possibly damaging	0.53
R7787:Prob1	UTSW	18	35652232	missense	possibly damaging	0.73
R7798:Prob1	UTSW	18	35653344	missense	possibly damaging	0.93
R8048:Prob1	UTSW	18	35653551	missense	probably benign	0.00
R8101:Prob1	UTSW	18	35653233	missense	possibly damaging	0.85
R8260:Prob1	UTSW	18	35654157	missense	possibly damaging	0.86
X0067:Prob1	UTSW	18	35653091	missense	possibly damaging	0.70
Z1088:Prob1	UTSW	18	35652769	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AACATTGGGTTGAGGTGCGAGC -3'
(R):5'- CCAGATGTGGATACACCGGAACAG -3'

Sequencing Primer
(F):5'- TGCGAGCGCCTCCTAAAG -3'
(R):5'- GGTTAAGACTACTTATGCACCAAGC -3'

Posted On

2013-05-09