Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R0257 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

35783400-35788274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35786092 bp (GRCm39)

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]

AlphaFold

A0A087WR45

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
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Car2	C	G	3: 14,965,037 (GRCm39)	H224D	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,861,052 (GRCm39)		probably null	Het
Lama4	T	C	10: 38,970,880 (GRCm39)		probably benign	Het
Luzp2	A	G	7: 54,899,194 (GRCm39)	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	Het

Other mutations in Prob1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Prob1	APN	18	35,786,386 (GRCm39)	missense	possibly damaging	0.91
IGL02352:Prob1	APN	18	35,785,893 (GRCm39)	missense	possibly damaging	0.53
IGL02359:Prob1	APN	18	35,785,893 (GRCm39)	missense	possibly damaging	0.53
IGL02823:Prob1	APN	18	35,785,800 (GRCm39)	missense	possibly damaging	0.86
IGL03003:Prob1	APN	18	35,786,428 (GRCm39)	missense	possibly damaging	0.73
IGL03390:Prob1	APN	18	35,787,192 (GRCm39)	missense	probably benign	0.03
R0421:Prob1	UTSW	18	35,786,083 (GRCm39)	missense	possibly damaging	0.70
R0457:Prob1	UTSW	18	35,785,539 (GRCm39)	missense	probably damaging	0.98
R0485:Prob1	UTSW	18	35,786,878 (GRCm39)	missense	possibly damaging	0.53
R0575:Prob1	UTSW	18	35,787,774 (GRCm39)	missense	possibly damaging	0.85
R1056:Prob1	UTSW	18	35,786,663 (GRCm39)	missense	probably benign
R1147:Prob1	UTSW	18	35,787,859 (GRCm39)	nonsense	probably null
R1334:Prob1	UTSW	18	35,786,305 (GRCm39)	missense	possibly damaging	0.53
R1727:Prob1	UTSW	18	35,787,364 (GRCm39)	missense	possibly damaging	0.73
R1753:Prob1	UTSW	18	35,786,305 (GRCm39)	missense	possibly damaging	0.53
R1826:Prob1	UTSW	18	35,786,628 (GRCm39)	missense	possibly damaging	0.72
R1895:Prob1	UTSW	18	35,785,942 (GRCm39)	missense	possibly damaging	0.53
R1937:Prob1	UTSW	18	35,787,279 (GRCm39)	missense	possibly damaging	0.53
R2170:Prob1	UTSW	18	35,787,790 (GRCm39)	missense	probably benign	0.18
R3435:Prob1	UTSW	18	35,787,294 (GRCm39)	missense	possibly damaging	0.72
R4749:Prob1	UTSW	18	35,785,869 (GRCm39)	missense	possibly damaging	0.91
R4968:Prob1	UTSW	18	35,785,605 (GRCm39)	missense	probably damaging	0.98
R5107:Prob1	UTSW	18	35,785,989 (GRCm39)	missense	possibly damaging	0.53
R5602:Prob1	UTSW	18	35,787,079 (GRCm39)	missense	possibly damaging	0.96
R5646:Prob1	UTSW	18	35,787,167 (GRCm39)	missense	probably benign	0.18
R6035:Prob1	UTSW	18	35,787,835 (GRCm39)	missense	probably benign	0.18
R6747:Prob1	UTSW	18	35,788,207 (GRCm39)	missense	probably damaging	0.97
R6954:Prob1	UTSW	18	35,787,321 (GRCm39)	missense	probably benign
R7061:Prob1	UTSW	18	35,787,553 (GRCm39)	missense	probably benign	0.18
R7292:Prob1	UTSW	18	35,787,603 (GRCm39)	missense	possibly damaging	0.93
R7296:Prob1	UTSW	18	35,786,352 (GRCm39)	missense	possibly damaging	0.53
R7566:Prob1	UTSW	18	35,788,038 (GRCm39)	missense	probably benign	0.33
R7723:Prob1	UTSW	18	35,785,942 (GRCm39)	missense	possibly damaging	0.53
R7787:Prob1	UTSW	18	35,785,285 (GRCm39)	missense	possibly damaging	0.73
R7798:Prob1	UTSW	18	35,786,397 (GRCm39)	missense	possibly damaging	0.93
R8048:Prob1	UTSW	18	35,786,604 (GRCm39)	missense	probably benign	0.00
R8101:Prob1	UTSW	18	35,786,286 (GRCm39)	missense	possibly damaging	0.85
R8260:Prob1	UTSW	18	35,787,210 (GRCm39)	missense	possibly damaging	0.86
R8676:Prob1	UTSW	18	35,787,039 (GRCm39)	missense	possibly damaging	0.53
R9304:Prob1	UTSW	18	35,787,708 (GRCm39)	missense	probably damaging	1.00
R9440:Prob1	UTSW	18	35,786,218 (GRCm39)	missense	possibly damaging	0.53
X0067:Prob1	UTSW	18	35,786,144 (GRCm39)	missense	possibly damaging	0.70
Z1088:Prob1	UTSW	18	35,785,822 (GRCm39)	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