Mutagenetix > Incidental Mutation

Incidental Mutation 'R7787:Prob1'

599631

Institutional Source

Beutler Lab

Gene Symbol

Prob1

Ensembl Gene

ENSMUSG00000073600

Gene Name

proline rich basic protein 1

Synonyms

LOC381148, Gm1614

MMRRC Submission

045843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R7787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35783400-35788274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35785285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 990 (F990I)

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: F986I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: F986I

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

possibly damaging
Transcript: ENSMUST00000190196
AA Change: F990I

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: F990I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,263,926 (GRCm39)	I38N	probably damaging	Het
Abcb4	G	A	5: 8,959,220 (GRCm39)	V216M	probably damaging	Het
Abcc2	G	A	19: 43,772,685 (GRCm39)	V32M	probably damaging	Het
Adgrb3	C	A	1: 25,471,625 (GRCm39)	V714F	probably damaging	Het
Ahnak	T	A	19: 8,986,679 (GRCm39)	D2654E	unknown	Het
Ak8	T	A	2: 28,602,324 (GRCm39)	I86N	probably damaging	Het
Apob	G	A	12: 8,040,780 (GRCm39)	R635Q	probably damaging	Het
Atp10b	G	A	11: 43,150,700 (GRCm39)	R1466H	possibly damaging	Het
Bltp1	A	C	3: 36,939,557 (GRCm39)	H137P	probably damaging	Het
Btnl9	T	C	11: 49,066,866 (GRCm39)	T252A	unknown	Het
Cacna1e	T	A	1: 154,358,314 (GRCm39)	I648F	probably damaging	Het
Camkk1	A	G	11: 72,917,412 (GRCm39)	D121G	probably benign	Het
Cc2d1a	C	A	8: 84,860,144 (GRCm39)	Q904H	possibly damaging	Het
Cd1d1	A	G	3: 86,904,903 (GRCm39)	S212P	probably damaging	Het
Cfap69	C	T	5: 5,639,260 (GRCm39)	C638Y	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Clca4a	A	G	3: 144,659,594 (GRCm39)	V754A	probably benign	Het
Cnpy4	T	A	5: 138,190,900 (GRCm39)	H187Q	probably benign	Het
Cpne5	A	T	17: 29,407,261 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,767,515 (GRCm39)	N359K	probably benign	Het
Cyb561	A	T	11: 105,828,466 (GRCm39)	L63H	probably damaging	Het
Dock4	A	G	12: 40,775,676 (GRCm39)	T540A	probably benign	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Fstl5	A	C	3: 76,337,131 (GRCm39)	D230A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hecw1	T	C	13: 14,493,494 (GRCm39)	Q337R	probably damaging	Het
Hmcn1	A	T	1: 150,632,343 (GRCm39)	Y865N	probably damaging	Het
Hyal6	A	G	6: 24,743,735 (GRCm39)	Y477C	probably damaging	Het
Ifi205	C	T	1: 173,842,640 (GRCm39)	G352E	probably damaging	Het
Ifi205	T	A	1: 173,842,644 (GRCm39)	S351C	probably damaging	Het
Irak3	C	A	10: 120,012,256 (GRCm39)	Q169H	probably benign	Het
Itgb1	T	A	8: 129,453,499 (GRCm39)	N99K	probably benign	Het
Kng2	A	G	16: 22,818,598 (GRCm39)	F298S	probably damaging	Het
Kri1	T	C	9: 21,192,380 (GRCm39)	E256G		Het
Lamc3	T	C	2: 31,790,551 (GRCm39)	I257T	probably damaging	Het
Mas1	A	C	17: 13,061,374 (GRCm39)	N16K	possibly damaging	Het
Mdn1	T	A	4: 32,741,794 (GRCm39)	L3855Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybph	G	A	1: 134,125,246 (GRCm39)	G258D	probably benign	Het
Mycbp2	A	C	14: 103,364,533 (GRCm39)	H4358Q	probably damaging	Het
Nat10	T	C	2: 103,552,208 (GRCm39)	D1012G	unknown	Het
Nub1	C	A	5: 24,913,801 (GRCm39)	Q561K	probably benign	Het
Nynrin	A	G	14: 56,107,980 (GRCm39)	N1029S	probably benign	Het
Or52x1	A	T	7: 104,853,252 (GRCm39)	C99*	probably null	Het
Or56a4	T	G	7: 104,806,401 (GRCm39)	I163L	probably benign	Het
Or5k15	A	G	16: 58,709,953 (GRCm39)	F210S	probably benign	Het
Or6e1	A	G	14: 54,520,169 (GRCm39)	L61P	probably damaging	Het
Or8g19	C	T	9: 39,055,548 (GRCm39)	L51F	probably benign	Het
Pcsk1	T	A	13: 75,280,277 (GRCm39)	Y701N	possibly damaging	Het
Pglyrp4	C	G	3: 90,640,295 (GRCm39)	H182D	probably damaging	Het
Phaf1	T	G	8: 105,957,820 (GRCm39)	V42G	probably damaging	Het
Pkp4	C	A	2: 59,152,881 (GRCm39)	D576E	probably damaging	Het
Plec	A	G	15: 76,083,811 (GRCm39)	V17A	unknown	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Pou4f1	A	T	14: 104,703,460 (GRCm39)	M324K	unknown	Het
Ppa2	G	T	3: 133,036,259 (GRCm39)	G138W	probably damaging	Het
Proser1	T	A	3: 53,380,969 (GRCm39)	I182N	probably damaging	Het
Sgk3	T	C	1: 9,952,016 (GRCm39)	L214P	probably damaging	Het
Sipa1l1	T	C	12: 82,496,762 (GRCm39)	S1765P	possibly damaging	Het
Slc15a2	G	A	16: 36,572,228 (GRCm39)	S712L	probably benign	Het
Slc38a9	T	C	13: 112,825,880 (GRCm39)	L106P	probably damaging	Het
Slc43a2	G	A	11: 75,453,900 (GRCm39)	R271H	probably damaging	Het
Spsb4	T	A	9: 96,877,643 (GRCm39)	I227F	probably damaging	Het
Srgap3	C	T	6: 112,752,520 (GRCm39)	M321I	probably benign	Het
Stam2	T	C	2: 52,596,418 (GRCm39)	I340V	probably benign	Het
Tbc1d5	T	A	17: 51,181,711 (GRCm39)	R341*	probably null	Het
Terf2ip	A	C	8: 112,742,087 (GRCm39)	E260D	probably damaging	Het
Tert	G	T	13: 73,797,051 (GRCm39)	K1096N	probably damaging	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Ube3d	T	A	9: 86,254,395 (GRCm39)	Q362L	possibly damaging	Het
Unc5c	G	A	3: 141,474,313 (GRCm39)	G295D	probably damaging	Het
Wnt7b	T	A	15: 85,428,112 (GRCm39)	I117F	probably damaging	Het
Zcchc7	T	C	4: 44,895,043 (GRCm39)		probably null	Het
Zfp619	A	G	7: 39,186,226 (GRCm39)	Q752R	possibly damaging	Het
Zkscan3	T	C	13: 21,572,034 (GRCm39)	K533E	possibly damaging	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
R0257:Prob1	UTSW	18	35,786,092 (GRCm39)	missense	possibly damaging	0.53
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
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'- GCTGGAACTGGCCAAAGAATTG -3'
(R):5'- TACGTGGAAGTACTGCTGC -3'

Sequencing Primer
(F):5'- CTGGCCAAAGAATTGATGGG -3'
(R):5'- GAAGTACTGCTGCCACCCTC -3'

Posted On

2019-11-26