Mutagenetix > Incidental Mutation

Incidental Mutation 'R7723:Prob1'

595366

Institutional Source

Beutler Lab

Gene Symbol

Prob1

Ensembl Gene

ENSMUSG00000073600

Gene Name

proline rich basic protein 1

Synonyms

LOC381148, Gm1614

MMRRC Submission

045779-MU

Accession Numbers

Essential gene?

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

Stock #

R7723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35783400-35788274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35785942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 771 (T771A)

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: T767A

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

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: T767A

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: T771A

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

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: T771A

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	G	A	2: 22,761,574 (GRCm39)		probably null	Het
Brinp3	C	T	1: 146,577,409 (GRCm39)	T148I	probably damaging	Het
C1qa	A	T	4: 136,623,744 (GRCm39)	C153*	probably null	Het
Camkk1	G	T	11: 72,928,058 (GRCm39)	R363L	probably benign	Het
Ccdc80	T	G	16: 44,946,798 (GRCm39)		probably null	Het
Cenpu	T	C	8: 47,029,349 (GRCm39)	S351P	probably damaging	Het
Chd9	C	T	8: 91,741,837 (GRCm39)	L1609F	unknown	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Cyp3a59	A	T	5: 146,016,154 (GRCm39)	I4F	probably benign	Het
Dph6	A	G	2: 114,475,236 (GRCm39)	V93A	probably damaging	Het
Egf	T	A	3: 129,499,786 (GRCm39)	M785L	probably benign	Het
Fbn1	A	T	2: 125,223,954 (GRCm39)	C598*	probably null	Het
Fer	T	C	17: 64,203,273 (GRCm39)	S68P	probably damaging	Het
Herc1	C	T	9: 66,279,158 (GRCm39)	T22I	probably benign	Het
Kat2b	A	G	17: 53,945,415 (GRCm39)	D278G	possibly damaging	Het
Kdm1a	C	T	4: 136,285,060 (GRCm39)	V520I	probably benign	Het
Lrrc4c	G	T	2: 97,460,999 (GRCm39)	V542L	possibly damaging	Het
Lrrtm3	T	C	10: 63,924,427 (GRCm39)	T247A	possibly damaging	Het
Macf1	T	C	4: 123,326,717 (GRCm39)	S4929G	probably benign	Het
Mbd4	A	T	6: 115,822,324 (GRCm39)	H428Q	possibly damaging	Het
Mink1	C	G	11: 70,503,736 (GRCm39)	Q1183E	probably benign	Het
Myo9a	C	T	9: 59,687,141 (GRCm39)	P82L	probably damaging	Het
Nts	T	C	10: 102,320,784 (GRCm39)	T102A	probably damaging	Het
Nup35	T	C	2: 80,486,375 (GRCm39)	I230T	possibly damaging	Het
Nwd2	A	T	5: 63,965,347 (GRCm39)	T1644S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5j	A	T	9: 39,867,920 (GRCm39)	Y104N	possibly damaging	Het
Or13p10	A	G	4: 118,522,914 (GRCm39)	S67G	probably benign	Het
Or2at4	A	G	7: 99,384,884 (GRCm39)	Y178C	possibly damaging	Het
Or2l13b	A	T	16: 19,349,358 (GRCm39)	L104*	probably null	Het
Or5d44	A	C	2: 88,141,819 (GRCm39)	V107G	possibly damaging	Het
Palld	C	T	8: 62,164,492 (GRCm39)	V400I	probably damaging	Het
Pank2	T	C	2: 131,122,258 (GRCm39)	V261A	probably damaging	Het
Pcdhb3	C	A	18: 37,435,565 (GRCm39)	N510K	probably damaging	Het
Pfkfb2	A	T	1: 130,635,325 (GRCm39)	Y79N	probably damaging	Het
Phc2	C	T	4: 128,616,882 (GRCm39)	A385V	probably benign	Het
Psmb6	T	C	11: 70,417,396 (GRCm39)	V109A	possibly damaging	Het
Ptcd1	T	C	5: 145,091,639 (GRCm39)	T487A	probably damaging	Het
Ralgapa1	A	T	12: 55,788,298 (GRCm39)	M595K	probably benign	Het
Rps12	A	T	10: 23,662,752 (GRCm39)	V14D	probably benign	Het
Scn3b	C	A	9: 40,199,693 (GRCm39)	S203*	probably null	Het
Serinc1	G	A	10: 57,403,918 (GRCm39)	P15L	probably benign	Het
Six2	A	G	17: 85,995,103 (GRCm39)	I93T	probably benign	Het
Slco1a1	T	A	6: 141,854,795 (GRCm39)	I619F	probably damaging	Het
Snx25	A	C	8: 46,491,516 (GRCm39)	V858G	probably damaging	Het
Sspo	G	A	6: 48,441,572 (GRCm39)	C1903Y	probably damaging	Het
Tas2r116	T	A	6: 132,832,867 (GRCm39)	I156N	probably benign	Het
Tasp1	G	T	2: 139,827,051 (GRCm39)	T189K	probably damaging	Het
Tdrd6	A	T	17: 43,936,851 (GRCm39)	M1399K	probably benign	Het
Tecta	C	A	9: 42,278,232 (GRCm39)	C1092F	probably damaging	Het
Tmem150a	G	A	6: 72,336,057 (GRCm39)	V215I	probably damaging	Het
Tmem176b	C	T	6: 48,812,869 (GRCm39)	V109I	probably benign	Het
Trav8d-1	T	A	14: 53,016,321 (GRCm39)	I69K	probably damaging	Het
Ttn	A	T	2: 76,638,419 (GRCm39)	L13954I	probably damaging	Het
Veph1	C	A	3: 66,113,093 (GRCm39)	C237F	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,119 (GRCm39)	T107I	probably damaging	Het
Zdhhc13	G	A	7: 48,458,567 (GRCm39)	M300I	probably benign	Het
Zfp608	T	C	18: 55,030,673 (GRCm39)	D1089G	probably 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
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'- GCCTCCACAAAGTAGTACCG -3'
(R):5'- TCCATGCAACCCCTAAGGATG -3'

Sequencing Primer
(F):5'- AAAGTAGTACCGGCCGCTCTC -3'
(R):5'- TAAGGATGCCTCCCAGTCCAG -3'

Posted On

2019-11-12