Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Prob1'

661416

Institutional Source

Beutler Lab

Gene Symbol

Prob1

Ensembl Gene

ENSMUSG00000073600

Gene Name

proline rich basic protein 1

Synonyms

LOC381148, Gm1614

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

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

Stock #

R8676 (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 35787039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 405 (N405S)

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: N401S

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

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: N401S

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: N405S

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

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: N405S

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: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	A	4: 144,396,683 (GRCm39)	R350C	possibly damaging	Het
Acsm3	T	A	7: 119,374,392 (GRCm39)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,340,447 (GRCm39)		probably benign	Het
Alk	T	C	17: 72,204,936 (GRCm39)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,302,009 (GRCm39)		probably null	Het
Anxa6	C	A	11: 54,892,108 (GRCm39)	E283*	probably null	Het
Bnc2	T	C	4: 84,194,550 (GRCm39)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,727,043 (GRCm39)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,410,860 (GRCm39)	S449P	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,736,456 (GRCm39)	L1345H	possibly damaging	Het
Cyld	A	T	8: 89,456,138 (GRCm39)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,418,579 (GRCm39)	T340A	possibly damaging	Het
Czib	A	G	4: 107,752,796 (GRCm39)	N152D	unknown	Het
Dera	A	T	6: 137,807,202 (GRCm39)	I217F	probably damaging	Het
Dnah11	A	G	12: 118,154,539 (GRCm39)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,759,447 (GRCm39)	T152M	probably damaging	Het
Entrep1	T	C	19: 23,965,858 (GRCm39)	K214E	probably damaging	Het
Epb41l2	C	T	10: 25,319,674 (GRCm39)	T169M	probably benign	Het
Fam186a	T	C	15: 99,845,023 (GRCm39)	D407G	unknown	Het
Gli3	T	A	13: 15,889,619 (GRCm39)	C578S	probably damaging	Het
Gm6408	A	G	5: 146,419,237 (GRCm39)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,838,361 (GRCm39)	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,708,133 (GRCm39)		probably benign	Het
Hyal4	C	A	6: 24,755,826 (GRCm39)	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcna3	A	G	3: 106,943,908 (GRCm39)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,241,020 (GRCm39)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm39)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm39)		probably null	Het
Mtres1	A	G	10: 43,408,933 (GRCm39)	L70S	probably benign	Het
Myh13	T	A	11: 67,233,311 (GRCm39)	L610Q	probably damaging	Het
Or13p5	C	A	4: 118,592,235 (GRCm39)	P170T	probably damaging	Het
Or5ap2	T	A	2: 85,680,246 (GRCm39)	M150K	probably benign	Het
Or8b52	T	C	9: 38,577,064 (GRCm39)	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,454,129 (GRCm39)	T170S	probably benign	Het
Polr3b	T	A	10: 84,516,251 (GRCm39)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,742,146 (GRCm39)	L26Q	probably damaging	Het
Proz	T	G	8: 13,123,630 (GRCm39)	S300R	probably damaging	Het
Psg19	A	G	7: 18,527,990 (GRCm39)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,467,401 (GRCm39)	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,382,452 (GRCm39)	Y103N	probably damaging	Het
Rspry1	G	C	8: 95,358,747 (GRCm39)	G194R	probably benign	Het
Scn2b	A	G	9: 45,036,917 (GRCm39)	I142V	probably damaging	Het
Spata20	A	T	11: 94,372,607 (GRCm39)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,614,503 (GRCm39)	H335L	probably benign	Het
Taar4	A	C	10: 23,836,801 (GRCm39)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tek	A	T	4: 94,738,074 (GRCm39)	H708L	probably benign	Het
Tmem89	C	T	9: 108,744,095 (GRCm39)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,559,681 (GRCm39)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,299,814 (GRCm39)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,659,422 (GRCm39)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,201,626 (GRCm39)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,798,240 (GRCm39)		probably benign	Het
Zfp423	C	A	8: 88,509,338 (GRCm39)	M335I	probably benign	Het
Zfp74	T	C	7: 29,634,079 (GRCm39)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,312,264 (GRCm39)	S116R	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
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
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
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'- CTTCAGGACATGGGTTCCCAAC -3'
(R):5'- AGTTCCAGCATCTTTCTGCAG -3'

Sequencing Primer
(F):5'- AGGACATGGGTTCCCAACTCTAG -3'
(R):5'- TCTGCAGTCAGAGGAGAAACC -3'

Posted On

2021-03-08