Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Rptn'

661143

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

MMRRC Submission

068526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93305501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 945 (S945G)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045912]

AlphaFold

P97347

Predicted Effect

probably benign
Transcript: ENSMUST00000045912
AA Change: S945G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: S945G

Domain	Start	End	E-Value	Type
Pfam:S_100	4	46	3.2e-13	PFAM
Blast:EFh	53	81	5e-10	BLAST
low complexity region	189	204	N/A	INTRINSIC
low complexity region	237	252	N/A	INTRINSIC
Blast:CTD	318	461	1e-7	BLAST
low complexity region	1007	1041	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,861,166 (GRCm39)	E145K	probably damaging	Het
Ambp	A	T	4: 63,068,656 (GRCm39)	Y120*	probably null	Het
Ankrd36	C	T	11: 5,579,312 (GRCm39)	A192V	probably benign	Het
Apol7e	A	T	15: 77,601,803 (GRCm39)	M134L	probably benign	Het
Atg9b	A	T	5: 24,591,107 (GRCm39)	N774K	probably benign	Het
Catsperb	T	A	12: 101,560,596 (GRCm39)	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 129,646,948 (GRCm39)	D648V	probably damaging	Het
Cfap54	G	T	10: 92,790,934 (GRCm39)	P1855T	unknown	Het
Clcnkb	T	A	4: 141,139,541 (GRCm39)	T154S	probably damaging	Het
Cux1	C	T	5: 136,279,454 (GRCm39)	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,252,667 (GRCm39)	D413G	possibly damaging	Het
Elp1	A	G	4: 56,771,453 (GRCm39)	L948P	probably damaging	Het
Flnc	T	C	6: 29,443,501 (GRCm39)		probably null	Het
Grm5	T	C	7: 87,765,498 (GRCm39)		probably null	Het
Hectd3	T	G	4: 116,853,778 (GRCm39)	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,082,976 (GRCm39)	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Larp4	C	A	15: 99,908,339 (GRCm39)	Q607K	probably benign	Het
Marchf8	A	G	6: 116,378,815 (GRCm39)	R250G	probably benign	Het
Med13	A	C	11: 86,161,923 (GRCm39)	N2135K	probably damaging	Het
Msh5	T	A	17: 35,264,909 (GRCm39)	R89*	probably null	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 113,022,609 (GRCm39)	Q261R	unknown	Het
Npr1	A	T	3: 90,363,464 (GRCm39)		probably benign	Het
Nynrin	T	A	14: 56,107,899 (GRCm39)	V1002E	possibly damaging	Het
Or2l5	T	C	16: 19,333,804 (GRCm39)	Y194C	possibly damaging	Het
Or4c103	A	T	2: 88,513,449 (GRCm39)	F209Y	probably benign	Het
Or4f14c	T	A	2: 111,941,333 (GRCm39)	K88M	probably damaging	Het
Or5w15	A	T	2: 87,567,990 (GRCm39)	L226Q	probably damaging	Het
Pcare	G	T	17: 72,058,372 (GRCm39)	A435E	probably benign	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Potefam1	T	C	2: 111,059,877 (GRCm39)		probably benign	Het
Potefam3e	T	A	8: 19,784,775 (GRCm39)	L203*	probably null	Het
Prkd1	T	A	12: 50,435,191 (GRCm39)	N512I	probably benign	Het
Pwwp2b	C	T	7: 138,836,326 (GRCm39)	P589L	probably damaging	Het
Rasgrp4	G	A	7: 28,842,452 (GRCm39)	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,467,973 (GRCm39)	V480G	probably damaging	Het
Slc22a2	C	T	17: 12,824,863 (GRCm39)	Q242*	probably null	Het
Slfn3	T	A	11: 83,103,825 (GRCm39)	V232E	probably benign	Het
Stab1	T	A	14: 30,879,365 (GRCm39)	K705M	probably damaging	Het
Syn2	C	A	6: 115,255,128 (GRCm39)	S480*	probably null	Het
Thsd4	A	T	9: 60,301,728 (GRCm39)	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,061,597 (GRCm39)	T250A	probably benign	Het
Tnc	A	T	4: 63,935,683 (GRCm39)	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,683,385 (GRCm39)	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,693,722 (GRCm39)		probably benign	Het
Xcl1	T	C	1: 164,759,419 (GRCm39)	M94V	probably benign	Het
Zfp369	T	C	13: 65,444,095 (GRCm39)	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,764,595 (GRCm39)	I279S	possibly damaging	Het
Zfp971	A	C	2: 177,675,730 (GRCm39)	Q443P	probably damaging	Het

Other mutations in Rptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Rptn	APN	3	93,304,489 (GRCm39)	missense	probably benign
IGL01070:Rptn	APN	3	93,305,483 (GRCm39)	missense	possibly damaging	0.86
IGL01625:Rptn	APN	3	93,305,201 (GRCm39)	missense	probably benign	0.18
IGL01678:Rptn	APN	3	93,304,118 (GRCm39)	missense	probably benign	0.00
IGL01716:Rptn	APN	3	93,304,017 (GRCm39)	missense	possibly damaging	0.53
IGL01767:Rptn	APN	3	93,302,946 (GRCm39)	missense	probably benign	0.00
IGL01872:Rptn	APN	3	93,304,154 (GRCm39)	missense	probably benign
IGL02000:Rptn	APN	3	93,303,735 (GRCm39)	missense	probably benign	0.01
IGL02066:Rptn	APN	3	93,304,436 (GRCm39)	missense	probably benign	0.01
IGL02090:Rptn	APN	3	93,304,041 (GRCm39)	missense	possibly damaging	0.85
IGL02116:Rptn	APN	3	93,302,404 (GRCm39)	missense	possibly damaging	0.88
IGL02216:Rptn	APN	3	93,303,080 (GRCm39)	missense	possibly damaging	0.73
IGL02368:Rptn	APN	3	93,304,478 (GRCm39)	missense	probably benign	0.18
IGL02820:Rptn	APN	3	93,304,227 (GRCm39)	missense	probably benign	0.01
IGL03323:Rptn	APN	3	93,304,460 (GRCm39)	missense	probably benign
IGL03404:Rptn	APN	3	93,305,436 (GRCm39)	missense	possibly damaging	0.53
D3080:Rptn	UTSW	3	93,303,135 (GRCm39)	missense	possibly damaging	0.85
H8786:Rptn	UTSW	3	93,305,180 (GRCm39)	missense	possibly damaging	0.53
IGL03097:Rptn	UTSW	3	93,304,680 (GRCm39)	missense	probably damaging	1.00
LCD18:Rptn	UTSW	3	93,304,848 (GRCm39)	missense	probably benign
PIT4431001:Rptn	UTSW	3	93,304,704 (GRCm39)	small deletion	probably benign
PIT4480001:Rptn	UTSW	3	93,304,977 (GRCm39)	missense	possibly damaging	0.85
R1024:Rptn	UTSW	3	93,305,532 (GRCm39)	missense	possibly damaging	0.72
R1119:Rptn	UTSW	3	93,303,552 (GRCm39)	missense	possibly damaging	0.96
R1727:Rptn	UTSW	3	93,304,445 (GRCm39)	missense	possibly damaging	0.73
R1901:Rptn	UTSW	3	93,304,017 (GRCm39)	missense	possibly damaging	0.53
R2247:Rptn	UTSW	3	93,304,136 (GRCm39)	missense	probably benign
R2921:Rptn	UTSW	3	93,306,015 (GRCm39)	missense	possibly damaging	0.96
R2922:Rptn	UTSW	3	93,306,015 (GRCm39)	missense	possibly damaging	0.96
R2923:Rptn	UTSW	3	93,306,015 (GRCm39)	missense	possibly damaging	0.96
R3901:Rptn	UTSW	3	93,305,664 (GRCm39)	missense	probably benign
R3936:Rptn	UTSW	3	93,302,883 (GRCm39)	missense	possibly damaging	0.79
R4304:Rptn	UTSW	3	93,304,238 (GRCm39)	missense	probably benign	0.33
R4491:Rptn	UTSW	3	93,303,818 (GRCm39)	nonsense	probably null
R4654:Rptn	UTSW	3	93,304,792 (GRCm39)	missense	possibly damaging	0.53
R4870:Rptn	UTSW	3	93,303,776 (GRCm39)	nonsense	probably null
R5246:Rptn	UTSW	3	93,305,036 (GRCm39)	missense	possibly damaging	0.53
R5246:Rptn	UTSW	3	93,304,140 (GRCm39)	missense	probably damaging	0.98
R5544:Rptn	UTSW	3	93,305,780 (GRCm39)	missense	possibly damaging	0.53
R5555:Rptn	UTSW	3	93,304,008 (GRCm39)	missense	probably benign
R5896:Rptn	UTSW	3	93,305,639 (GRCm39)	nonsense	probably null
R5956:Rptn	UTSW	3	93,305,334 (GRCm39)	missense	possibly damaging	0.53
R6192:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6209:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6224:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6226:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6227:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6230:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6247:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6258:Rptn	UTSW	3	93,305,437 (GRCm39)	missense	possibly damaging	0.53
R6393:Rptn	UTSW	3	93,304,506 (GRCm39)	missense	probably benign
R6513:Rptn	UTSW	3	93,303,419 (GRCm39)	missense	possibly damaging	0.73
R6854:Rptn	UTSW	3	93,305,430 (GRCm39)	missense	possibly damaging	0.53
R6855:Rptn	UTSW	3	93,305,558 (GRCm39)	missense	probably benign	0.33
R6884:Rptn	UTSW	3	93,303,096 (GRCm39)	missense	probably benign	0.33
R7018:Rptn	UTSW	3	93,305,207 (GRCm39)	missense	possibly damaging	0.73
R7241:Rptn	UTSW	3	93,303,261 (GRCm39)	missense	probably benign	0.01
R7337:Rptn	UTSW	3	93,304,212 (GRCm39)	missense	probably benign	0.03
R7754:Rptn	UTSW	3	93,303,228 (GRCm39)	missense	probably damaging	0.98
R7794:Rptn	UTSW	3	93,303,036 (GRCm39)	missense	probably benign
R7801:Rptn	UTSW	3	93,305,531 (GRCm39)	missense	possibly damaging	0.53
R8161:Rptn	UTSW	3	93,304,000 (GRCm39)	small deletion	probably benign
R8374:Rptn	UTSW	3	93,303,602 (GRCm39)	nonsense	probably null
R8804:Rptn	UTSW	3	93,303,150 (GRCm39)	missense	probably damaging	0.98
R8934:Rptn	UTSW	3	93,303,219 (GRCm39)	missense	probably benign	0.00
R8938:Rptn	UTSW	3	93,302,332 (GRCm39)	missense	possibly damaging	0.93
R9056:Rptn	UTSW	3	93,304,412 (GRCm39)	missense	probably benign	0.33
R9082:Rptn	UTSW	3	93,302,928 (GRCm39)	missense	possibly damaging	0.94
R9140:Rptn	UTSW	3	93,303,445 (GRCm39)	nonsense	probably null
R9310:Rptn	UTSW	3	93,304,384 (GRCm39)	missense	probably benign	0.00
R9392:Rptn	UTSW	3	93,305,721 (GRCm39)	missense	probably benign
R9403:Rptn	UTSW	3	93,302,349 (GRCm39)	missense	probably benign	0.17
R9564:Rptn	UTSW	3	93,304,536 (GRCm39)	missense	probably benign
R9748:Rptn	UTSW	3	93,304,761 (GRCm39)	missense	possibly damaging	0.85
X0018:Rptn	UTSW	3	93,303,248 (GRCm39)	nonsense	probably null
Z1088:Rptn	UTSW	3	93,304,734 (GRCm39)	missense	probably benign	0.01
Z1176:Rptn	UTSW	3	93,302,325 (GRCm39)	missense	probably benign	0.26
Z1177:Rptn	UTSW	3	93,305,194 (GRCm39)	missense	possibly damaging	0.73
Z1177:Rptn	UTSW	3	93,303,019 (GRCm39)	missense	probably benign	0.01
Z1177:Rptn	UTSW	3	93,302,950 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGCAAAACAGGCACTCTC -3'
(R):5'- ATGTCTACCATGTTGATGATCGTG -3'

Sequencing Primer
(F):5'- GCACTCTCTAGGGACTGATAGAAC -3'
(R):5'- CTACCATGTTGATGATCGTGATTTTC -3'

Posted On

2021-03-08