Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01070:Rptn'

50703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

Accession Numbers

Genbank: NM_009100; MGI: 1099055

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

93393699-93399442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93398176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 939 (Y939N)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045912
AA Change: Y939N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: Y939N

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275 (GRCm38)	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133 (GRCm38)	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302 (GRCm38)	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879 (GRCm38)	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316 (GRCm38)	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm38)	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697 (GRCm38)	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145 (GRCm38)	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022 (GRCm38)	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078 (GRCm38)	V507I	probably benign	Het
Fam178b	C	T	1: 36,564,403 (GRCm38)	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579 (GRCm38)	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093 (GRCm38)	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997 (GRCm38)	I78L	possibly damaging	Het
Nrap	T	C	19: 56,329,084 (GRCm38)	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272 (GRCm38)	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343 (GRCm38)		probably benign	Het
Rbfox1	A	C	16: 7,306,443 (GRCm38)	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952 (GRCm38)	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238 (GRCm38)	I1884V	probably damaging	Het
Sart1	A	G	19: 5,383,951 (GRCm38)	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416 (GRCm38)	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601 (GRCm38)	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173 (GRCm38)		probably null	Het
Tecta	T	C	9: 42,395,003 (GRCm38)	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750 (GRCm38)	M685K	probably benign	Het
Trac	A	G	14: 54,220,766 (GRCm38)	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793 (GRCm38)	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590 (GRCm38)		probably null	Het
Utp18	A	T	11: 93,869,848 (GRCm38)	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942 (GRCm38)	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607 (GRCm38)	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268 (GRCm38)	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622 (GRCm38)		probably benign	Het
Yars2	C	T	16: 16,306,542 (GRCm38)	R338*	probably null	Het

Other mutations in Rptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Rptn	APN	3	93,397,182 (GRCm38)	missense	probably benign
IGL01625:Rptn	APN	3	93,397,894 (GRCm38)	missense	probably benign	0.18
IGL01678:Rptn	APN	3	93,396,811 (GRCm38)	missense	probably benign	0.00
IGL01716:Rptn	APN	3	93,396,710 (GRCm38)	missense	possibly damaging	0.53
IGL01767:Rptn	APN	3	93,395,639 (GRCm38)	missense	probably benign	0.00
IGL01872:Rptn	APN	3	93,396,847 (GRCm38)	missense	probably benign
IGL02000:Rptn	APN	3	93,396,428 (GRCm38)	missense	probably benign	0.01
IGL02066:Rptn	APN	3	93,397,129 (GRCm38)	missense	probably benign	0.01
IGL02090:Rptn	APN	3	93,396,734 (GRCm38)	missense	possibly damaging	0.85
IGL02116:Rptn	APN	3	93,395,097 (GRCm38)	missense	possibly damaging	0.88
IGL02216:Rptn	APN	3	93,395,773 (GRCm38)	missense	possibly damaging	0.73
IGL02368:Rptn	APN	3	93,397,171 (GRCm38)	missense	probably benign	0.18
IGL02820:Rptn	APN	3	93,396,920 (GRCm38)	missense	probably benign	0.01
IGL03323:Rptn	APN	3	93,397,153 (GRCm38)	missense	probably benign
IGL03404:Rptn	APN	3	93,398,129 (GRCm38)	missense	possibly damaging	0.53
D3080:Rptn	UTSW	3	93,395,828 (GRCm38)	missense	possibly damaging	0.85
H8786:Rptn	UTSW	3	93,397,873 (GRCm38)	missense	possibly damaging	0.53
IGL03097:Rptn	UTSW	3	93,397,373 (GRCm38)	missense	probably damaging	1.00
LCD18:Rptn	UTSW	3	93,397,541 (GRCm38)	missense	probably benign
PIT4431001:Rptn	UTSW	3	93,397,397 (GRCm38)	small deletion	probably benign
PIT4480001:Rptn	UTSW	3	93,397,670 (GRCm38)	missense	possibly damaging	0.85
R1024:Rptn	UTSW	3	93,398,225 (GRCm38)	missense	possibly damaging	0.72
R1119:Rptn	UTSW	3	93,396,245 (GRCm38)	missense	possibly damaging	0.96
R1727:Rptn	UTSW	3	93,397,138 (GRCm38)	missense	possibly damaging	0.73
R1901:Rptn	UTSW	3	93,396,710 (GRCm38)	missense	possibly damaging	0.53
R2247:Rptn	UTSW	3	93,396,829 (GRCm38)	missense	probably benign
R2921:Rptn	UTSW	3	93,398,708 (GRCm38)	missense	possibly damaging	0.96
R2922:Rptn	UTSW	3	93,398,708 (GRCm38)	missense	possibly damaging	0.96
R2923:Rptn	UTSW	3	93,398,708 (GRCm38)	missense	possibly damaging	0.96
R3901:Rptn	UTSW	3	93,398,357 (GRCm38)	missense	probably benign
R3936:Rptn	UTSW	3	93,395,576 (GRCm38)	missense	possibly damaging	0.79
R4304:Rptn	UTSW	3	93,396,931 (GRCm38)	missense	probably benign	0.33
R4491:Rptn	UTSW	3	93,396,511 (GRCm38)	nonsense	probably null
R4654:Rptn	UTSW	3	93,397,485 (GRCm38)	missense	possibly damaging	0.53
R4870:Rptn	UTSW	3	93,396,469 (GRCm38)	nonsense	probably null
R5246:Rptn	UTSW	3	93,397,729 (GRCm38)	missense	possibly damaging	0.53
R5246:Rptn	UTSW	3	93,396,833 (GRCm38)	missense	probably damaging	0.98
R5544:Rptn	UTSW	3	93,398,473 (GRCm38)	missense	possibly damaging	0.53
R5555:Rptn	UTSW	3	93,396,701 (GRCm38)	missense	probably benign
R5896:Rptn	UTSW	3	93,398,332 (GRCm38)	nonsense	probably null
R5956:Rptn	UTSW	3	93,398,027 (GRCm38)	missense	possibly damaging	0.53
R6192:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6209:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6224:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6226:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6227:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6230:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6247:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6258:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6393:Rptn	UTSW	3	93,397,199 (GRCm38)	missense	probably benign
R6513:Rptn	UTSW	3	93,396,112 (GRCm38)	missense	possibly damaging	0.73
R6854:Rptn	UTSW	3	93,398,123 (GRCm38)	missense	possibly damaging	0.53
R6855:Rptn	UTSW	3	93,398,251 (GRCm38)	missense	probably benign	0.33
R6884:Rptn	UTSW	3	93,395,789 (GRCm38)	missense	probably benign	0.33
R7018:Rptn	UTSW	3	93,397,900 (GRCm38)	missense	possibly damaging	0.73
R7241:Rptn	UTSW	3	93,395,954 (GRCm38)	missense	probably benign	0.01
R7337:Rptn	UTSW	3	93,396,905 (GRCm38)	missense	probably benign	0.03
R7754:Rptn	UTSW	3	93,395,921 (GRCm38)	missense	probably damaging	0.98
R7794:Rptn	UTSW	3	93,395,729 (GRCm38)	missense	probably benign
R7801:Rptn	UTSW	3	93,398,224 (GRCm38)	missense	possibly damaging	0.53
R8161:Rptn	UTSW	3	93,396,693 (GRCm38)	small deletion	probably benign
R8374:Rptn	UTSW	3	93,396,295 (GRCm38)	nonsense	probably null
R8671:Rptn	UTSW	3	93,398,194 (GRCm38)	missense	probably benign	0.18
R8804:Rptn	UTSW	3	93,395,843 (GRCm38)	missense	probably damaging	0.98
R8934:Rptn	UTSW	3	93,395,912 (GRCm38)	missense	probably benign	0.00
R8938:Rptn	UTSW	3	93,395,025 (GRCm38)	missense	possibly damaging	0.93
R9056:Rptn	UTSW	3	93,397,105 (GRCm38)	missense	probably benign	0.33
R9082:Rptn	UTSW	3	93,395,621 (GRCm38)	missense	possibly damaging	0.94
R9140:Rptn	UTSW	3	93,396,138 (GRCm38)	nonsense	probably null
R9310:Rptn	UTSW	3	93,397,077 (GRCm38)	missense	probably benign	0.00
R9392:Rptn	UTSW	3	93,398,414 (GRCm38)	missense	probably benign
R9403:Rptn	UTSW	3	93,395,042 (GRCm38)	missense	probably benign	0.17
R9564:Rptn	UTSW	3	93,397,229 (GRCm38)	missense	probably benign
R9748:Rptn	UTSW	3	93,397,454 (GRCm38)	missense	possibly damaging	0.85
X0018:Rptn	UTSW	3	93,395,941 (GRCm38)	nonsense	probably null
Z1088:Rptn	UTSW	3	93,397,427 (GRCm38)	missense	probably benign	0.01
Z1176:Rptn	UTSW	3	93,395,018 (GRCm38)	missense	probably benign	0.26
Z1177:Rptn	UTSW	3	93,397,887 (GRCm38)	missense	possibly damaging	0.73
Z1177:Rptn	UTSW	3	93,395,712 (GRCm38)	missense	probably benign	0.01
Z1177:Rptn	UTSW	3	93,395,643 (GRCm38)	nonsense	probably null

Posted On

2013-06-21