Mutagenetix > Incidental Mutation

Incidental Mutation 'R1119:Rptn'

97688

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

MMRRC Submission

039192-MU

Accession Numbers

Essential gene?

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

Stock #

R1119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93303552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 295 (Y295C)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045912
AA Change: Y295C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: Y295C

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

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

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	C	7: 82,189,525 (GRCm39)	E583A	probably damaging	Het
Aoah	T	A	13: 21,099,108 (GRCm39)		probably benign	Het
Atf7ip2	A	G	16: 10,058,476 (GRCm39)	K305R	possibly damaging	Het
Bltp1	T	G	3: 37,041,194 (GRCm39)	V2524G	probably damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Cfap57	G	A	4: 118,463,873 (GRCm39)	Q327*	probably null	Het
Ckap2l	A	T	2: 129,114,492 (GRCm39)		probably benign	Het
Cul2	A	G	18: 3,419,335 (GRCm39)		probably benign	Het
Ddx60	G	A	8: 62,395,578 (GRCm39)	V172M	probably damaging	Het
Drp2	T	C	X: 133,342,071 (GRCm39)	L545P	probably damaging	Het
Ezh1	A	G	11: 101,101,361 (GRCm39)		probably benign	Het
Gipc2	A	G	3: 151,799,833 (GRCm39)	F299S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hikeshi	A	G	7: 89,584,938 (GRCm39)	S89P	probably benign	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Larp1b	C	A	3: 40,987,963 (GRCm39)	R62S	possibly damaging	Het
Lgr5	A	T	10: 115,296,716 (GRCm39)		probably null	Het
Lpin1	C	A	12: 16,613,722 (GRCm39)	D449Y	probably damaging	Het
Macrod2	A	T	2: 140,242,826 (GRCm39)	I31L	probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nxpe5	G	A	5: 138,237,658 (GRCm39)	D61N	probably benign	Het
Ogdh	T	A	11: 6,290,544 (GRCm39)	H376Q	probably damaging	Het
P4ha3	T	C	7: 99,962,535 (GRCm39)	I431T	probably damaging	Het
Pcdhb14	G	A	18: 37,581,640 (GRCm39)	V249M	probably damaging	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pik3r6	C	T	11: 68,436,698 (GRCm39)	T654I	probably benign	Het
Sec16b	A	G	1: 157,392,404 (GRCm39)	D924G	possibly damaging	Het
Setd1b	C	A	5: 123,285,779 (GRCm39)	T275K	unknown	Het
Sgcb	T	A	5: 73,801,757 (GRCm39)	K36I	probably damaging	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stab2	T	C	10: 86,695,619 (GRCm39)	D599G	possibly damaging	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tax1bp1	C	A	6: 52,718,933 (GRCm39)		probably benign	Het
Thnsl1	A	G	2: 21,217,857 (GRCm39)	N16S	probably damaging	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Vmn2r60	A	T	7: 41,844,365 (GRCm39)	Q576L	possibly damaging	Het
Zfp62	G	T	11: 49,107,517 (GRCm39)	R536L	probably damaging	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGACAACAAAGCAGTCATGGTCAG -3'
(R):5'- TGTCCGATGCCACTGTGAATTCTG -3'

Sequencing Primer
(F):5'- CAGTCATGGTCAGTCTGGAAG -3'
(R):5'- GTCTGCCTTTCTGACCCAG -3'

Posted On

2014-01-05