Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02820:Rptn'

360944

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 #

IGL02820

Quality Score

Status

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93304227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 520 (N520I)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

probably benign
Transcript: ENSMUST00000045912
AA Change: N520I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: N520I

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
9030624G23Rik	T	C	12: 24,124,417 (GRCm39)	Y86C	probably benign	Het
Adgra2	G	A	8: 27,607,535 (GRCm39)	V47M	probably damaging	Het
Anks1b	T	C	10: 89,912,921 (GRCm39)	C349R	possibly damaging	Het
Anks4b	A	T	7: 119,781,914 (GRCm39)		probably benign	Het
Apobec2	A	G	17: 48,730,295 (GRCm39)	S124P	probably damaging	Het
Brd8	G	A	18: 34,740,354 (GRCm39)	S493L	probably benign	Het
Cbln3	A	G	14: 56,120,944 (GRCm39)	Y126H	probably damaging	Het
Ccdc138	T	C	10: 58,364,721 (GRCm39)		probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ceacam2	T	A	7: 25,219,411 (GRCm39)	H283L	probably damaging	Het
Cfap251	A	G	5: 123,392,699 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,478,834 (GRCm39)	D718G	possibly damaging	Het
Clmn	A	T	12: 104,739,493 (GRCm39)	Y979N	probably damaging	Het
Ddias	T	C	7: 92,508,551 (GRCm39)	T455A	probably benign	Het
Dennd5b	T	C	6: 148,920,840 (GRCm39)	R851G	probably null	Het
Dock1	T	C	7: 134,768,944 (GRCm39)	V1771A	probably benign	Het
Dysf	T	A	6: 84,077,187 (GRCm39)	L694Q	probably damaging	Het
Faim2	T	C	15: 99,419,138 (GRCm39)	Y77C	probably benign	Het
Fbxw22	A	T	9: 109,215,732 (GRCm39)	I172N	probably damaging	Het
Fhad1	C	T	4: 141,646,069 (GRCm39)	D298N	probably benign	Het
Fyb1	T	G	15: 6,688,040 (GRCm39)	V800G	possibly damaging	Het
Gcm1	T	C	9: 77,971,844 (GRCm39)	F262L	probably benign	Het
Gm21983	T	C	7: 26,879,605 (GRCm39)	M121V	probably benign	Het
Gm9996	A	T	10: 29,019,657 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,876,074 (GRCm39)		probably benign	Het
Gsto2	G	T	19: 47,863,398 (GRCm39)	E91D	probably damaging	Het
Hs6st3	G	T	14: 119,376,492 (GRCm39)	M222I	possibly damaging	Het
Ighv3-6	T	C	12: 114,251,850 (GRCm39)	D90G	probably damaging	Het
Itgb1bp1	C	T	12: 21,326,854 (GRCm39)	A40T	possibly damaging	Het
Kcns3	C	T	12: 11,141,872 (GRCm39)	E276K	probably benign	Het
Lamc3	C	T	2: 31,813,034 (GRCm39)	R1007C	probably damaging	Het
Lnx2	A	T	5: 146,978,877 (GRCm39)	M125K	probably damaging	Het
Lyst	T	A	13: 13,812,643 (GRCm39)	N1018K	probably benign	Het
Mctp2	T	A	7: 71,895,290 (GRCm39)	S186C	probably damaging	Het
Or1j20	A	T	2: 36,759,871 (GRCm39)	T98S	probably benign	Het
Polg	T	C	7: 79,109,519 (GRCm39)	T433A	possibly damaging	Het
Rdh13	C	T	7: 4,438,059 (GRCm39)	V127M	probably damaging	Het
Rdh16	A	G	10: 127,649,470 (GRCm39)	T309A	probably benign	Het
Reep5	A	T	18: 34,506,312 (GRCm39)	D21E	probably benign	Het
Rttn	T	C	18: 89,047,122 (GRCm39)	L928P	probably damaging	Het
Slc44a2	A	G	9: 21,254,273 (GRCm39)	I212V	probably benign	Het
Snupn	A	G	9: 56,870,332 (GRCm39)	T71A	probably benign	Het
Ssu2	T	C	6: 112,359,353 (GRCm39)	N89S	probably benign	Het
Thsd7a	A	G	6: 12,321,071 (GRCm39)	S1535P	probably damaging	Het
Tmt1a	C	A	15: 100,202,933 (GRCm39)	S51*	probably null	Het
Uba7	A	T	9: 107,858,715 (GRCm39)	S849C	probably benign	Het
Vmn2r80	A	G	10: 79,007,439 (GRCm39)	T472A	probably benign	Het
Wdr6	A	G	9: 108,455,743 (GRCm39)	I17T	probably benign	Het
Xkr9	G	A	1: 13,771,173 (GRCm39)	V230I	probably benign	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
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

2015-12-18