Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Rptn'

711331

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_009100; MGI: 1099055

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93393699-93399442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93395042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 22 (H22N)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

probably benign
Transcript: ENSMUST00000045912
AA Change: H22N

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: H22N

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299 (GRCm38)	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941 (GRCm38)	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646 (GRCm38)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198 (GRCm38)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927 (GRCm38)	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396 (GRCm38)	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071 (GRCm38)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090 (GRCm38)	V8A		Het
Fbn2	T	C	18: 58,066,107 (GRCm38)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148 (GRCm38)	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256 (GRCm38)	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077 (GRCm38)	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177 (GRCm38)	V284A		Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970 (GRCm38)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm38)		probably null	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Mylk	C	A	16: 34,875,642 (GRCm38)	S249*	probably null	Het
Naa35	G	A	13: 59,601,003 (GRCm38)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830 (GRCm38)	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974 (GRCm38)	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532 (GRCm38)	I26V	probably benign	Het
Polq	T	C	16: 37,061,853 (GRCm38)	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854 (GRCm38)	Y99F	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573 (GRCm38)		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575 (GRCm38)		probably benign	Het
Slc2a3	A	C	6: 122,736,610 (GRCm38)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641 (GRCm38)	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523 (GRCm38)	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652 (GRCm38)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997 (GRCm38)	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259 (GRCm38)	F313S	possibly damaging	Het

Other mutations in Rptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Rptn	APN	3	93,397,182 (GRCm38)	missense	probably benign
IGL01070:Rptn	APN	3	93,398,176 (GRCm38)	missense	possibly damaging	0.86
IGL01625:Rptn	APN	3	93,397,894 (GRCm38)	missense	probably benign	0.18
IGL01678:Rptn	APN	3	93,396,811 (GRCm38)	missense	probably benign	0.00
IGL01716:Rptn	APN	3	93,396,710 (GRCm38)	missense	possibly damaging	0.53
IGL01767:Rptn	APN	3	93,395,639 (GRCm38)	missense	probably benign	0.00
IGL01872:Rptn	APN	3	93,396,847 (GRCm38)	missense	probably benign
IGL02000:Rptn	APN	3	93,396,428 (GRCm38)	missense	probably benign	0.01
IGL02066:Rptn	APN	3	93,397,129 (GRCm38)	missense	probably benign	0.01
IGL02090:Rptn	APN	3	93,396,734 (GRCm38)	missense	possibly damaging	0.85
IGL02116:Rptn	APN	3	93,395,097 (GRCm38)	missense	possibly damaging	0.88
IGL02216:Rptn	APN	3	93,395,773 (GRCm38)	missense	possibly damaging	0.73
IGL02368:Rptn	APN	3	93,397,171 (GRCm38)	missense	probably benign	0.18
IGL02820:Rptn	APN	3	93,396,920 (GRCm38)	missense	probably benign	0.01
IGL03323:Rptn	APN	3	93,397,153 (GRCm38)	missense	probably benign
IGL03404:Rptn	APN	3	93,398,129 (GRCm38)	missense	possibly damaging	0.53
D3080:Rptn	UTSW	3	93,395,828 (GRCm38)	missense	possibly damaging	0.85
H8786:Rptn	UTSW	3	93,397,873 (GRCm38)	missense	possibly damaging	0.53
IGL03097:Rptn	UTSW	3	93,397,373 (GRCm38)	missense	probably damaging	1.00
LCD18:Rptn	UTSW	3	93,397,541 (GRCm38)	missense	probably benign
PIT4431001:Rptn	UTSW	3	93,397,397 (GRCm38)	small deletion	probably benign
PIT4480001:Rptn	UTSW	3	93,397,670 (GRCm38)	missense	possibly damaging	0.85
R1024:Rptn	UTSW	3	93,398,225 (GRCm38)	missense	possibly damaging	0.72
R1119:Rptn	UTSW	3	93,396,245 (GRCm38)	missense	possibly damaging	0.96
R1727:Rptn	UTSW	3	93,397,138 (GRCm38)	missense	possibly damaging	0.73
R1901:Rptn	UTSW	3	93,396,710 (GRCm38)	missense	possibly damaging	0.53
R2247:Rptn	UTSW	3	93,396,829 (GRCm38)	missense	probably benign
R2921:Rptn	UTSW	3	93,398,708 (GRCm38)	missense	possibly damaging	0.96
R2922:Rptn	UTSW	3	93,398,708 (GRCm38)	missense	possibly damaging	0.96
R2923:Rptn	UTSW	3	93,398,708 (GRCm38)	missense	possibly damaging	0.96
R3901:Rptn	UTSW	3	93,398,357 (GRCm38)	missense	probably benign
R3936:Rptn	UTSW	3	93,395,576 (GRCm38)	missense	possibly damaging	0.79
R4304:Rptn	UTSW	3	93,396,931 (GRCm38)	missense	probably benign	0.33
R4491:Rptn	UTSW	3	93,396,511 (GRCm38)	nonsense	probably null
R4654:Rptn	UTSW	3	93,397,485 (GRCm38)	missense	possibly damaging	0.53
R4870:Rptn	UTSW	3	93,396,469 (GRCm38)	nonsense	probably null
R5246:Rptn	UTSW	3	93,397,729 (GRCm38)	missense	possibly damaging	0.53
R5246:Rptn	UTSW	3	93,396,833 (GRCm38)	missense	probably damaging	0.98
R5544:Rptn	UTSW	3	93,398,473 (GRCm38)	missense	possibly damaging	0.53
R5555:Rptn	UTSW	3	93,396,701 (GRCm38)	missense	probably benign
R5896:Rptn	UTSW	3	93,398,332 (GRCm38)	nonsense	probably null
R5956:Rptn	UTSW	3	93,398,027 (GRCm38)	missense	possibly damaging	0.53
R6192:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6209:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6224:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6226:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6227:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6230:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6247:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6258:Rptn	UTSW	3	93,398,130 (GRCm38)	missense	possibly damaging	0.53
R6393:Rptn	UTSW	3	93,397,199 (GRCm38)	missense	probably benign
R6513:Rptn	UTSW	3	93,396,112 (GRCm38)	missense	possibly damaging	0.73
R6854:Rptn	UTSW	3	93,398,123 (GRCm38)	missense	possibly damaging	0.53
R6855:Rptn	UTSW	3	93,398,251 (GRCm38)	missense	probably benign	0.33
R6884:Rptn	UTSW	3	93,395,789 (GRCm38)	missense	probably benign	0.33
R7018:Rptn	UTSW	3	93,397,900 (GRCm38)	missense	possibly damaging	0.73
R7241:Rptn	UTSW	3	93,395,954 (GRCm38)	missense	probably benign	0.01
R7337:Rptn	UTSW	3	93,396,905 (GRCm38)	missense	probably benign	0.03
R7754:Rptn	UTSW	3	93,395,921 (GRCm38)	missense	probably damaging	0.98
R7794:Rptn	UTSW	3	93,395,729 (GRCm38)	missense	probably benign
R7801:Rptn	UTSW	3	93,398,224 (GRCm38)	missense	possibly damaging	0.53
R8161:Rptn	UTSW	3	93,396,693 (GRCm38)	small deletion	probably benign
R8374:Rptn	UTSW	3	93,396,295 (GRCm38)	nonsense	probably null
R8671:Rptn	UTSW	3	93,398,194 (GRCm38)	missense	probably benign	0.18
R8804:Rptn	UTSW	3	93,395,843 (GRCm38)	missense	probably damaging	0.98
R8934:Rptn	UTSW	3	93,395,912 (GRCm38)	missense	probably benign	0.00
R8938:Rptn	UTSW	3	93,395,025 (GRCm38)	missense	possibly damaging	0.93
R9056:Rptn	UTSW	3	93,397,105 (GRCm38)	missense	probably benign	0.33
R9082:Rptn	UTSW	3	93,395,621 (GRCm38)	missense	possibly damaging	0.94
R9140:Rptn	UTSW	3	93,396,138 (GRCm38)	nonsense	probably null
R9310:Rptn	UTSW	3	93,397,077 (GRCm38)	missense	probably benign	0.00
R9392:Rptn	UTSW	3	93,398,414 (GRCm38)	missense	probably benign
R9564:Rptn	UTSW	3	93,397,229 (GRCm38)	missense	probably benign
R9748:Rptn	UTSW	3	93,397,454 (GRCm38)	missense	possibly damaging	0.85
X0018:Rptn	UTSW	3	93,395,941 (GRCm38)	nonsense	probably null
Z1088:Rptn	UTSW	3	93,397,427 (GRCm38)	missense	probably benign	0.01
Z1176:Rptn	UTSW	3	93,395,018 (GRCm38)	missense	probably benign	0.26
Z1177:Rptn	UTSW	3	93,397,887 (GRCm38)	missense	possibly damaging	0.73
Z1177:Rptn	UTSW	3	93,395,712 (GRCm38)	missense	probably benign	0.01
Z1177:Rptn	UTSW	3	93,395,643 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGACTCCAGGTTCACATG -3'
(R):5'- CCAATGGGGTATTATCACGAGG -3'

Sequencing Primer
(F):5'- TCCAGGTTCACATGCCAAAC -3'
(R):5'- CACTATGCTGTAACATTCTAGAAGG -3'

Posted On

2022-05-16