Mutagenetix > Incidental Mutation

Incidental Mutation 'R8938:Rptn'

680776

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

MMRRC Submission

068711-MU

Accession Numbers

Essential gene?

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

Stock #

R8938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93302332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 16 (Q16L)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045912
AA Change: Q16L

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: Q16L

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	G	4: 73,861,424 (GRCm39)	S59P	probably damaging	Het
Abcc8	G	T	7: 45,816,418 (GRCm39)	H241N		Het
Acsm1	T	C	7: 119,258,385 (GRCm39)	S493P	probably damaging	Het
Agtr1a	T	C	13: 30,565,049 (GRCm39)	I38T	probably damaging	Het
Ahnak	T	C	19: 8,989,099 (GRCm39)	I3461T	probably benign	Het
Bbox1	T	A	2: 110,100,529 (GRCm39)	T223S	probably benign	Het
Brip1	T	C	11: 86,039,227 (GRCm39)	K436E	possibly damaging	Het
Cdhr1	T	A	14: 36,809,405 (GRCm39)	T299S	probably benign	Het
Cr2	T	C	1: 194,853,424 (GRCm39)	D18G	probably damaging	Het
Cyp51	T	C	5: 4,150,202 (GRCm39)	I174V	probably benign	Het
Dnah2	A	T	11: 69,328,754 (GRCm39)	Y3290N	probably damaging	Het
Fcho1	T	G	8: 72,169,790 (GRCm39)	K111T	possibly damaging	Het
Firrm	C	T	1: 163,789,541 (GRCm39)	V665I	probably benign	Het
Gli2	A	T	1: 118,763,935 (GRCm39)	D1405E	probably damaging	Het
Gsg1l2	A	G	11: 67,680,399 (GRCm39)	H278R	possibly damaging	Het
H2-K2	T	C	17: 34,216,294 (GRCm39)	H284R	probably damaging	Het
Ighv1-62-1	C	T	12: 115,350,735 (GRCm39)	W5*	probably null	Het
Ighv1-81	T	A	12: 115,883,988 (GRCm39)	T88S	probably benign	Het
Igkv4-57	T	A	6: 69,553,256 (GRCm39)	M19L	probably benign	Het
Klk1b3	G	T	7: 43,849,729 (GRCm39)	W38L	probably damaging	Het
Lama3	T	C	18: 12,689,762 (GRCm39)	S2835P	probably damaging	Het
Lhx8	T	C	3: 154,028,024 (GRCm39)	N145S	possibly damaging	Het
Mfsd6	A	T	1: 52,748,454 (GRCm39)	L137H	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,270 (GRCm39)	M1L	possibly damaging	Het
Mrpl2	T	A	17: 46,957,238 (GRCm39)		probably benign	Het
Mybpc3	T	C	2: 90,954,294 (GRCm39)	V224A	probably damaging	Het
Nol4l	T	C	2: 153,262,651 (GRCm39)	D63G	probably damaging	Het
Or8g36	A	T	9: 39,422,910 (GRCm39)	Y35*	probably null	Het
Patz1	C	T	11: 3,240,660 (GRCm39)	T16I	probably damaging	Het
Pcdha3	A	G	18: 37,080,154 (GRCm39)	I299V	probably benign	Het
Pcdhb18	G	T	18: 37,623,537 (GRCm39)	R289L	probably benign	Het
Pcdhga6	A	T	18: 37,841,562 (GRCm39)	R427S	probably benign	Het
Pcdhga8	T	A	18: 37,859,955 (GRCm39)	V337E	probably damaging	Het
Pik3c2b	T	A	1: 133,016,068 (GRCm39)	W877R	probably benign	Het
Plcg2	T	C	8: 118,231,114 (GRCm39)		probably null	Het
Prp2	C	A	6: 132,577,581 (GRCm39)	H289Q	unknown	Het
Rac2	A	G	15: 78,446,112 (GRCm39)	L192P	probably damaging	Het
Rfx4	T	A	10: 84,675,936 (GRCm39)	Y51N	probably damaging	Het
Ryr1	C	T	7: 28,801,358 (GRCm39)	G802D	probably damaging	Het
Shroom3	T	C	5: 93,090,930 (GRCm39)	S1146P	probably damaging	Het
Stam	T	C	2: 14,133,984 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,751,825 (GRCm39)	M623V	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Xkr7	T	C	2: 152,874,133 (GRCm39)	F67L	probably damaging	Het
Zfp451	A	T	1: 33,842,063 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp974	A	T	7: 27,610,311 (GRCm39)	H471Q	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
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
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'- ATGGCTAAGAAGGGTTTCTCTG -3'
(R):5'- CACTATGCTGTAACATTCTAGAAGG -3'

Sequencing Primer
(F):5'- AAGGGTTTCTCTGTGGTTTCTCAAAC -3'
(R):5'- TGCTGTAACATTCTAGAAGGAAAAG -3'

Posted On

2021-08-31