Mutagenetix > Incidental Mutation

Incidental Mutation 'R8374:Rptn'

646568

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

MMRRC Submission

067742-MU

Accession Numbers

Essential gene?

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

Stock #

R8374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 93303602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 312 (G312*)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

probably null
Transcript: ENSMUST00000045912
AA Change: G312*

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: G312*

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	C	T	9: 30,814,002 (GRCm39)	G721E	probably benign	Het
Aip	A	T	19: 4,165,456 (GRCm39)	M170K	probably damaging	Het
Alms1	T	C	6: 85,585,973 (GRCm39)	I276T	probably benign	Het
Arid1b	C	T	17: 5,392,919 (GRCm39)	P2097S	possibly damaging	Het
Astn1	T	G	1: 158,329,803 (GRCm39)	N219K	probably damaging	Het
Cbx2	G	T	11: 118,918,969 (GRCm39)	R178L	probably damaging	Het
Clptm1	G	A	7: 19,372,081 (GRCm39)	P252S	probably benign	Het
Crebbp	A	G	16: 3,902,175 (GRCm39)	S2355P	probably damaging	Het
D130043K22Rik	C	A	13: 25,041,962 (GRCm39)	T297K	probably benign	Het
Ddx60	A	G	8: 62,427,205 (GRCm39)	D760G	probably benign	Het
Dgka	T	C	10: 128,557,112 (GRCm39)	N621S	probably benign	Het
Ear10	A	T	14: 44,160,645 (GRCm39)	C61S	probably damaging	Het
F12	A	T	13: 55,569,144 (GRCm39)	C238S	probably damaging	Het
Fen1	A	G	19: 10,177,824 (GRCm39)	F207L	probably benign	Het
Fzr1	A	G	10: 81,203,368 (GRCm39)	L486P	probably damaging	Het
Gdnf	A	G	15: 7,864,176 (GRCm39)	R196G	probably benign	Het
Gldc	A	C	19: 30,114,594 (GRCm39)	F439V	probably damaging	Het
Gm3138	T	C	14: 4,251,688 (GRCm38)	M120T	probably damaging	Het
Gpi1	G	A	7: 33,920,082 (GRCm39)	A197V	probably benign	Het
Ighv1-4	T	A	12: 114,450,899 (GRCm39)	I70F	probably benign	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Kank1	A	T	19: 25,389,005 (GRCm39)	I893F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif13b	T	C	14: 65,025,884 (GRCm39)	S1414P	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mosmo	T	A	7: 120,329,715 (GRCm39)	M112K	probably benign	Het
Ntmt2	A	T	1: 163,530,617 (GRCm39)	M274K	probably damaging	Het
Or2d2b	A	G	7: 106,706,033 (GRCm39)	F12L	probably damaging	Het
Or2h1b	C	A	17: 37,462,636 (GRCm39)	V76F	probably damaging	Het
Or2w3b	T	A	11: 58,623,724 (GRCm39)	D89V	probably damaging	Het
Pak6	G	A	2: 118,524,477 (GRCm39)	V497I	probably benign	Het
Ppargc1b	G	A	18: 61,443,564 (GRCm39)	S549F	probably damaging	Het
Rassf8	T	A	6: 145,760,863 (GRCm39)	L63*	probably null	Het
Rsph14	T	C	10: 74,797,481 (GRCm39)	I169V	probably benign	Het
Sltm	A	G	9: 70,469,227 (GRCm39)	D162G	probably null	Het
Tatdn1	C	T	15: 58,788,000 (GRCm39)		probably null	Het
Tbx4	A	C	11: 85,805,102 (GRCm39)	E397A	probably benign	Het
Tdrd12	T	C	7: 35,177,486 (GRCm39)	D956G	unknown	Het
Tnr	G	A	1: 159,685,953 (GRCm39)	V395I	probably benign	Het
Ugt1a2	A	T	1: 88,129,107 (GRCm39)	H250L	possibly damaging	Het
Vmn1r173	C	T	7: 23,401,920 (GRCm39)	H52Y	probably damaging	Het
Vps11	T	C	9: 44,267,706 (GRCm39)	D302G	probably benign	Het
Zfp398	T	C	6: 47,836,468 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GGCCAGTCTAAAACATCTGGAC -3'
(R):5'- TTTCTGACCCTGGTGAGGAC -3'

Sequencing Primer
(F):5'- CAAAGCAGTCATGGTCAGTCTG -3'
(R):5'- AGGACTCTGGTCTTGTCTGCC -3'

Posted On

2020-09-02