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: 0.167) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35650351-35655238 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35653986 bp (GRCm38)

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
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	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
R0257:Prob1	UTSW	18	35653039	missense	possibly damaging	0.53
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
R9304:Prob1	UTSW	18	35654655	missense	probably damaging	1.00
R9440:Prob1	UTSW	18	35653165	missense	possibly damaging	0.53
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'- CTTCAGGACATGGGTTCCCAAC -3'
(R):5'- AGTTCCAGCATCTTTCTGCAG -3'

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

Posted On

2021-03-08