Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01872:Rptn'

178737

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 #

IGL01872

Quality Score

Status

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93304154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 496 (S496G)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

probably benign
Transcript: ENSMUST00000045912
AA Change: S496G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: S496G

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,058,120 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,437,824 (GRCm39)	S1657P	probably benign	Het
Alx4	A	G	2: 93,507,818 (GRCm39)	N371S	probably benign	Het
Cby1	T	A	15: 79,549,943 (GRCm39)	W59R	probably damaging	Het
Chmp1a	A	T	8: 123,932,976 (GRCm39)	L159Q	probably damaging	Het
Ciz1	T	C	2: 32,268,121 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,956,275 (GRCm39)	I603T	probably benign	Het
Dph1	A	C	11: 75,072,167 (GRCm39)	F220C	probably damaging	Het
Epha4	T	A	1: 77,359,676 (GRCm39)	M726L	probably benign	Het
Eps8l1	C	T	7: 4,475,295 (GRCm39)		probably benign	Het
Fbxo24	C	A	5: 137,611,987 (GRCm39)	R313L	probably damaging	Het
Fgf4	C	T	7: 144,415,995 (GRCm39)	R119*	probably null	Het
Grb10	T	C	11: 11,920,547 (GRCm39)	T24A	probably damaging	Het
Ifi27l2a	C	T	12: 103,401,719 (GRCm39)	A2V	probably damaging	Het
Ipmk	T	A	10: 71,208,706 (GRCm39)	M165K	probably damaging	Het
Kcnk2	C	T	1: 188,988,780 (GRCm39)	G266R	probably damaging	Het
Mak	A	C	13: 41,210,131 (GRCm39)	M35R	probably damaging	Het
Mlxipl	A	T	5: 135,142,545 (GRCm39)	I120F	probably damaging	Het
Nav1	A	G	1: 135,381,814 (GRCm39)	V1423A	probably damaging	Het
Olfm4	T	C	14: 80,259,368 (GRCm39)	*506Q	probably null	Het
Opn4	T	A	14: 34,319,166 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,176 (GRCm39)	L4P	possibly damaging	Het
Or52ab2	T	C	7: 102,970,179 (GRCm39)	V187A	probably benign	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Otof	G	A	5: 30,536,598 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,588,018 (GRCm39)		probably null	Het
Pik3r1	A	T	13: 101,825,625 (GRCm39)	D87E	probably benign	Het
Rbm6	A	T	9: 107,660,914 (GRCm39)	V883E	probably damaging	Het
Sap130	A	G	18: 31,807,473 (GRCm39)	R427G	probably damaging	Het
Slc26a4	T	C	12: 31,589,202 (GRCm39)	S415G	probably benign	Het
Slc5a1	T	C	5: 33,311,981 (GRCm39)	S458P	probably damaging	Het
Smg1	A	G	7: 117,748,167 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,431,623 (GRCm39)	V639L	probably damaging	Het
Ttn	A	G	2: 76,729,077 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps54	G	A	11: 21,256,940 (GRCm39)	A683T	probably damaging	Het
Zfp354a	A	T	11: 50,960,164 (GRCm39)	N123I	possibly damaging	Het
Zfpm2	T	C	15: 40,965,783 (GRCm39)	V624A	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
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
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

2014-05-07