Mutagenetix > Incidental Mutation

Incidental Mutation 'R6854:Rptn'

535136

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

MMRRC Submission

044957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R6854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93305430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 921 (N921S)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045912
AA Change: N921S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: N921S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (44/44)

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
Ahnak	T	C	19: 8,992,599 (GRCm39)	S4628P	probably damaging	Het
Aspm	G	A	1: 139,390,920 (GRCm39)	R735H	possibly damaging	Het
Atp4a	T	C	7: 30,414,433 (GRCm39)	V152A	probably benign	Het
BC035947	G	A	1: 78,475,125 (GRCm39)	T469I	probably damaging	Het
Bicra	A	T	7: 15,722,687 (GRCm39)	S277T	probably benign	Het
Catsperg1	A	T	7: 28,881,127 (GRCm39)	N1142K	possibly damaging	Het
Ccnd3	T	C	17: 47,889,645 (GRCm39)		probably benign	Het
Cdc25a	A	G	9: 109,708,995 (GRCm39)	K79E	probably damaging	Het
Cfap44	A	G	16: 44,269,391 (GRCm39)		probably null	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Flrt3	C	T	2: 140,502,638 (GRCm39)	R330H	probably damaging	Het
Gm6034	T	A	17: 36,368,110 (GRCm39)		probably null	Het
Hivep1	A	G	13: 42,309,983 (GRCm39)	E741G	probably damaging	Het
Iqgap3	T	C	3: 88,004,258 (GRCm39)	V448A	probably damaging	Het
Itsn2	A	G	12: 4,702,382 (GRCm39)	R679G	probably benign	Het
Klrb1c	A	G	6: 128,765,381 (GRCm39)	S70P	possibly damaging	Het
Maml2	C	T	9: 13,617,131 (GRCm39)	T159I	possibly damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mycl	G	A	4: 122,894,039 (GRCm39)	D280N	probably damaging	Het
Nlrp1b	G	A	11: 71,119,259 (GRCm39)	T12I	possibly damaging	Het
Or4f14c	T	C	2: 111,940,992 (GRCm39)	N202D	probably benign	Het
Or5h19	A	C	16: 58,856,428 (GRCm39)	I224S	possibly damaging	Het
Palmd	A	G	3: 116,717,112 (GRCm39)	S462P	probably benign	Het
Phyhd1	A	C	2: 30,159,773 (GRCm39)	I36L	possibly damaging	Het
Plcd1	T	C	9: 118,903,389 (GRCm39)		probably null	Het
Pml	G	C	9: 58,127,189 (GRCm39)	A806G	probably damaging	Het
Ppp6r1	C	A	7: 4,635,395 (GRCm39)	A838S	probably benign	Het
Prkdc	C	T	16: 15,469,402 (GRCm39)	T169I	probably damaging	Het
Prr23a1	G	T	9: 98,724,988 (GRCm39)	V117L	possibly damaging	Het
Pus7	T	C	5: 23,973,845 (GRCm39)		silent	Het
Rdh7	T	C	10: 127,724,250 (GRCm39)	E78G	probably benign	Het
Repin1	G	T	6: 48,570,825 (GRCm39)		probably benign	Het
Sema4f	A	G	6: 82,894,983 (GRCm39)	L404P	probably damaging	Het
Serinc4	T	A	2: 121,287,031 (GRCm39)	M2L	probably benign	Het
Siglecf	T	C	7: 43,001,604 (GRCm39)	V138A	probably benign	Het
Slc66a3	G	A	12: 17,049,830 (GRCm39)	L43F	probably damaging	Het
Speer2	T	A	16: 69,655,775 (GRCm39)	Q106L	probably damaging	Het
Sptb	G	A	12: 76,650,254 (GRCm39)	P1821L	probably damaging	Het
St3gal3	C	A	4: 117,815,727 (GRCm39)	M107I	probably benign	Het
Tmem25	T	C	9: 44,707,305 (GRCm39)	K265E	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vsig10	G	A	5: 117,476,472 (GRCm39)	V309I	probably benign	Het
Zfp318	G	GAAGAAA	17: 46,723,468 (GRCm39)		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
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
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'- GGCACTCTCTAGGGACTGATAG -3'
(R):5'- CTCGTCTACATGGGTTTGCC -3'

Sequencing Primer
(F):5'- CACTCTCTAGGGACTGATAGAACAAG -3'
(R):5'- ACATGGGTTTGCCTATCACTTG -3'

Posted On

2018-09-12