Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02090:Rptn'

279395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02090

Quality Score

Status

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93304041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 458 (D458G)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045912
AA Change: D458G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: D458G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195137

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	A	G	X: 162,968,701 (GRCm39)	T482A	probably damaging	Het
Adh1	T	C	3: 137,988,546 (GRCm39)	I173T	possibly damaging	Het
Apoa1	T	C	9: 46,140,548 (GRCm39)	S60P	possibly damaging	Het
Blnk	A	G	19: 40,922,929 (GRCm39)	V396A	probably benign	Het
Borcs8	A	G	8: 70,619,030 (GRCm39)	D204G	probably damaging	Het
Calhm5	G	A	10: 33,972,261 (GRCm39)	P58L	probably damaging	Het
Cbfa2t2	A	G	2: 154,373,336 (GRCm39)		probably benign	Het
Cdkal1	T	G	13: 29,701,493 (GRCm39)	I319L	probably benign	Het
Celsr1	T	A	15: 85,791,922 (GRCm39)	T2560S	possibly damaging	Het
Chd8	A	G	14: 52,464,691 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,932 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,866,876 (GRCm39)	N2265S	probably damaging	Het
Dnah5	C	T	15: 28,240,187 (GRCm39)		probably benign	Het
Epgn	G	A	5: 91,181,816 (GRCm39)	G133E	probably damaging	Het
Fdx2	C	A	9: 20,984,766 (GRCm39)	V13F	probably benign	Het
Gabarapl2	A	G	8: 112,667,831 (GRCm39)	Y25C	probably damaging	Het
Gigyf1	G	A	5: 137,523,826 (GRCm39)		probably null	Het
Gm6040	G	A	8: 21,407,169 (GRCm39)		probably benign	Het
Gm8229	T	C	14: 44,604,054 (GRCm39)	L81P	unknown	Het
Gstz1	A	G	12: 87,210,528 (GRCm39)	E137G	probably benign	Het
Htra1	T	C	7: 130,538,108 (GRCm39)	V36A	probably benign	Het
Ifnlr1	T	C	4: 135,432,578 (GRCm39)	V338A	probably benign	Het
Igsf8	A	G	1: 172,140,156 (GRCm39)		probably benign	Het
Khdc1a	T	A	1: 21,421,212 (GRCm39)	F132L	probably benign	Het
Kifc3	G	A	8: 95,829,108 (GRCm39)	S561L	probably damaging	Het
Mpi	T	C	9: 57,457,936 (GRCm39)	T89A	probably benign	Het
Ncor2	A	T	5: 125,111,467 (GRCm39)	M1281K	probably damaging	Het
Or4c117	T	C	2: 88,956,021 (GRCm39)	N18S	probably benign	Het
Or4k49	G	T	2: 111,495,333 (GRCm39)	C254F	probably damaging	Het
Or6c213	T	A	10: 129,574,181 (GRCm39)	I202L	probably benign	Het
Or6c66b	T	C	10: 129,377,176 (GRCm39)	Y257H	probably damaging	Het
Otog	G	A	7: 45,949,571 (GRCm39)	G2403D	probably damaging	Het
Pdgfb	C	A	15: 79,898,184 (GRCm39)	A6S	probably benign	Het
Pfkm	T	C	15: 98,021,121 (GRCm39)		probably null	Het
Plcb4	A	G	2: 135,789,041 (GRCm39)	M274V	probably benign	Het
Ppm1m	A	G	9: 106,074,001 (GRCm39)		probably null	Het
Sertad3	C	T	7: 27,175,950 (GRCm39)	S128F	probably benign	Het
Sgo2b	A	T	8: 64,380,123 (GRCm39)	L903Q	probably damaging	Het
Slc15a5	C	T	6: 138,020,598 (GRCm39)	R245H	probably benign	Het
Slc24a5	A	T	2: 124,910,218 (GRCm39)	T40S	probably benign	Het
Smchd1	T	C	17: 71,738,248 (GRCm39)	N539S	possibly damaging	Het
Tlr11	A	G	14: 50,600,489 (GRCm39)	D825G	probably damaging	Het
Top3b	T	G	16: 16,709,334 (GRCm39)	V674G	possibly damaging	Het
Urb2	G	A	8: 124,754,976 (GRCm39)	V228I	probably benign	Het
Usp24	C	T	4: 106,268,623 (GRCm39)	A2061V	possibly damaging	Het
Wdr72	C	A	9: 74,062,212 (GRCm39)	H453N	possibly damaging	Het
Xkr9	T	C	1: 13,771,600 (GRCm39)	M372T	probably damaging	Het
Zc3h12d	T	G	10: 7,743,096 (GRCm39)	S289A	probably benign	Het
Zfp607b	A	T	7: 27,398,140 (GRCm39)	M75L	possibly 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
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
R8671:Rptn	UTSW	3	93,305,501 (GRCm39)	missense	probably benign	0.18
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

Posted On

2015-04-16