Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03097:Rptn'

453203

Institutional Source

Beutler Lab

Gene Symbol

Rptn

Ensembl Gene

ENSMUSG00000041984

Gene Name

repetin

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93301006-93306749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93304680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 671 (G671D)

Ref Sequence

ENSEMBL: ENSMUSP00000044998 (fasta)

Gene Model

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

AlphaFold

P97347

Predicted Effect

probably damaging
Transcript: ENSMUST00000045912
AA Change: G671D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: G671D

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

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

90% (46/51)

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
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Adcy9	T	C	16: 4,235,930 (GRCm39)	T257A	possibly damaging	Het
Ahnak	A	G	19: 8,979,751 (GRCm39)	D345G	probably benign	Het
Ak5	A	G	3: 152,366,151 (GRCm39)		probably null	Het
Akap3	A	G	6: 126,843,379 (GRCm39)	K666R	probably damaging	Het
Alpk3	A	G	7: 80,743,657 (GRCm39)	N1158S	probably benign	Het
Atp23	A	T	10: 126,723,556 (GRCm39)	V182E	probably damaging	Het
Atp4a	A	G	7: 30,422,462 (GRCm39)	D898G	probably benign	Het
Bnip3	T	C	7: 138,496,208 (GRCm39)	N140S	probably damaging	Het
Bptf	T	C	11: 106,968,506 (GRCm39)	Y1059C	probably damaging	Het
Cacna1h	A	T	17: 25,610,118 (GRCm39)	I796N	probably damaging	Het
Ccnb2	A	G	9: 70,316,678 (GRCm39)		probably benign	Het
Cd3g	T	A	9: 44,882,061 (GRCm39)	D165V	probably damaging	Het
Cfap70	T	C	14: 20,498,676 (GRCm39)	T4A	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,330,673 (GRCm39)	T97M	probably benign	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,675,227 (GRCm39)	T812I	probably benign	Het
Csmd1	G	T	8: 15,995,127 (GRCm39)	T2636K	probably damaging	Het
Cyp39a1	T	A	17: 43,993,941 (GRCm39)	Y200*	probably null	Het
Dlg4	T	G	11: 69,933,028 (GRCm39)	I478S	probably damaging	Het
Dsc3	A	T	18: 20,107,105 (GRCm39)	N505K	probably benign	Het
Efhc1	T	C	1: 21,043,049 (GRCm39)	W323R	probably damaging	Het
Ehhadh	T	A	16: 21,581,520 (GRCm39)	I491L	probably benign	Het
Ggt6	T	G	11: 72,327,639 (GRCm39)	H148Q	possibly damaging	Het
Gstm3	T	C	3: 107,876,117 (GRCm39)	D25G	probably benign	Het
Gtf2h3	G	A	5: 124,740,231 (GRCm39)		probably benign	Het
Hjurp	TGGG	TTGCGGG	1: 88,194,002 (GRCm39)		probably benign	Het
Hnf4g	A	C	3: 3,716,674 (GRCm39)	E281A	probably damaging	Het
Impg1	T	G	9: 80,287,234 (GRCm39)	E404A	possibly damaging	Het
Kcna2	T	C	3: 107,012,715 (GRCm39)	V432A	probably benign	Het
Map3k2	T	G	18: 32,333,070 (GRCm39)	D81E	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp9	T	A	2: 164,792,726 (GRCm39)		probably null	Het
Mroh2a	G	A	1: 88,163,098 (GRCm39)	R376H	probably benign	Het
Ms4a1	G	T	19: 11,230,556 (GRCm39)	T215N	probably benign	Het
Pam16	T	C	16: 4,434,458 (GRCm39)	I111V	probably benign	Het
Pde6c	A	G	19: 38,166,719 (GRCm39)	T720A	probably damaging	Het
Pgap2	T	C	7: 101,885,434 (GRCm39)	L100P	probably damaging	Het
Ppl	T	A	16: 4,914,590 (GRCm39)	S686C	probably damaging	Het
Rnls	A	G	19: 33,115,679 (GRCm39)		probably benign	Het
Robo3	A	C	9: 37,333,824 (GRCm39)		probably null	Het
Slc6a21	C	T	7: 44,937,592 (GRCm39)	Q628*	probably null	Het
Smg6	T	G	11: 74,823,252 (GRCm39)	I708S	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Thap1	C	G	8: 26,652,498 (GRCm39)	P79A	probably benign	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	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
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
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'- AAGTCCAGGGTTCTCACCAG -3'
(R):5'- TTTCTGACCCTGGTGAGGACTC -3'

Sequencing Primer
(F):5'- TTCTCACCAGGGTCAGACAG -3'
(R):5'- TGCCTTTCTGACCCAGGTGAG -3'

Posted On

2017-01-31