Mutagenetix > Incidental Mutation

Incidental Mutation 'R5214:Rnpepl1'

403313

Institutional Source

Beutler Lab

Gene Symbol

Rnpepl1

Ensembl Gene

ENSMUSG00000026269

Gene Name

arginyl aminopeptidase (aminopeptidase B)-like 1

Synonyms

1110014H17Rik

MMRRC Submission

042787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92837697-92848307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92847001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 608 (D608Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027487] [ENSMUST00000178116]

AlphaFold

G5E872

Predicted Effect

probably benign
Transcript: ENSMUST00000027487
AA Change: D608Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: D608Y

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
Pfam:Peptidase_M1	36	440	3e-58	PFAM
Leuk-A4-hydro_C	523	668	1.31e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178116

SMART Domains

Protein: ENSMUSP00000136080
Gene: ENSMUSG00000026269

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	5	170	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178816

Predicted Effect

unknown
Transcript: ENSMUST00000179127
AA Change: D262Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179854

Predicted Effect

probably benign
Transcript: ENSMUST00000179993

Predicted Effect

probably benign
Transcript: ENSMUST00000179837

Predicted Effect

probably benign
Transcript: ENSMUST00000179531

Meta Mutation Damage Score

0.1063

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	A	G	3: 116,861,424 (GRCm39)		noncoding transcript	Het
4930449A18Rik	A	T	3: 59,733,305 (GRCm39)		noncoding transcript	Het
Acsbg3	T	C	17: 57,193,493 (GRCm39)	V613A	probably benign	Het
Adgrl1	G	A	8: 84,642,202 (GRCm39)		probably null	Het
Aldh1l1	A	G	6: 90,540,399 (GRCm39)	D228G	probably damaging	Het
Ankrd17	T	C	5: 90,431,319 (GRCm39)	I822V	possibly damaging	Het
Atm	C	A	9: 53,402,327 (GRCm39)	A1382S	probably benign	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Cacna1e	T	A	1: 154,577,110 (GRCm39)	I96F	possibly damaging	Het
Calhm5	A	G	10: 33,968,487 (GRCm39)	S189P	probably damaging	Het
Ccar1	G	A	10: 62,606,740 (GRCm39)	R335C	probably damaging	Het
Ccdc113	T	C	8: 96,272,601 (GRCm39)	I236T	possibly damaging	Het
Ccdc14	T	A	16: 34,525,225 (GRCm39)	S125T	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdon	T	C	9: 35,394,504 (GRCm39)	C917R	probably damaging	Het
Ckap2l	T	C	2: 129,127,389 (GRCm39)	D263G	probably benign	Het
Cntnap3	G	T	13: 64,909,824 (GRCm39)	H760Q	probably damaging	Het
Dennd2d	G	A	3: 106,393,637 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,754,465 (GRCm39)	I485V	probably benign	Het
Dspp	A	G	5: 104,326,364 (GRCm39)	D909G	unknown	Het
Eps8	A	T	6: 137,504,490 (GRCm39)	M81K	probably damaging	Het
Fras1	T	C	5: 96,917,452 (GRCm39)	S3491P	probably damaging	Het
Gm17669	C	T	18: 67,695,479 (GRCm39)	T8I	possibly damaging	Het
Gm5114	G	T	7: 39,057,792 (GRCm39)	T609K	probably benign	Het
Gm973	A	G	1: 59,565,880 (GRCm39)	N32S	probably damaging	Het
Herpud1	G	T	8: 95,117,479 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,674,134 (GRCm39)	L632Q	probably damaging	Het
Kcnh8	T	C	17: 53,205,486 (GRCm39)	L527S	probably damaging	Het
Klk1b11	C	A	7: 43,647,266 (GRCm39)	H67N	probably benign	Het
Ldhb	T	A	6: 142,441,321 (GRCm39)	I190F	probably damaging	Het
Lrrc34	A	T	3: 30,690,397 (GRCm39)	C168*	probably null	Het
Lrtm1	C	T	14: 28,743,651 (GRCm39)	H40Y	possibly damaging	Het
Mageb3	T	C	2: 121,785,319 (GRCm39)	M128V	possibly damaging	Het
Miga2	A	G	2: 30,261,208 (GRCm39)	T90A	probably benign	Het
Msantd5	C	A	11: 51,125,675 (GRCm39)	H199Q	possibly damaging	Het
Ndrg1	G	A	15: 66,831,239 (GRCm39)	T24I	probably damaging	Het
Nos2	T	C	11: 78,846,267 (GRCm39)	L878P	probably damaging	Het
Or11g27	T	G	14: 50,771,804 (GRCm39)	*312E	probably null	Het
Pcdhgb1	T	A	18: 37,814,478 (GRCm39)	I323N	probably damaging	Het
Plec	A	G	15: 76,061,921 (GRCm39)	I2537T	probably damaging	Het
Pnpo	C	A	11: 96,833,295 (GRCm39)	E68D	probably benign	Het
Ppp6r1	C	T	7: 4,646,176 (GRCm39)	R175Q	probably benign	Het
Prnp	C	T	2: 131,778,924 (GRCm39)	T192I	probably damaging	Het
Ptprb	T	C	10: 116,205,229 (GRCm39)	I2148T	possibly damaging	Het
Raf1	G	T	6: 115,614,583 (GRCm39)	F99L	possibly damaging	Het
Rbks	A	G	5: 31,807,736 (GRCm39)		probably benign	Het
Rlf	T	C	4: 121,007,897 (GRCm39)	D361G	probably damaging	Het
Scaf1	G	A	7: 44,652,662 (GRCm39)		probably benign	Het
Sh3rf1	A	T	8: 61,825,765 (GRCm39)	M587L	probably damaging	Het
Slc22a21	A	T	11: 53,843,869 (GRCm39)	S473T	probably damaging	Het
Syt15	A	G	14: 33,943,703 (GRCm39)	D84G	possibly damaging	Het
Tbc1d19	T	C	5: 54,007,183 (GRCm39)	L236P	probably benign	Het
Tbx2	G	T	11: 85,729,263 (GRCm39)	A549S	probably benign	Het
Tc2n	A	T	12: 101,659,461 (GRCm39)	C157*	probably null	Het
Tecta	C	T	9: 42,256,964 (GRCm39)	V1571I	probably benign	Het
Them4	A	G	3: 94,224,818 (GRCm39)	K65R	probably benign	Het
Tmc5	C	T	7: 118,247,155 (GRCm39)	T553M	probably damaging	Het
Tmem200c	C	T	17: 69,148,122 (GRCm39)	A235V	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tmf1	G	C	6: 97,144,253 (GRCm39)	A701G	possibly damaging	Het
Tomm70a	G	A	16: 56,942,300 (GRCm39)	G26S	unknown	Het
Treh	T	C	9: 44,594,173 (GRCm39)	Y140H	probably damaging	Het
Ttc28	A	G	5: 111,325,489 (GRCm39)		probably benign	Het
Uba7	T	C	9: 107,854,713 (GRCm39)		probably benign	Het
Ube4a	T	C	9: 44,860,166 (GRCm39)	I299V	probably benign	Het
Zfhx4	A	C	3: 5,468,701 (GRCm39)	K2953T	probably damaging	Het
Zfp280d	T	A	9: 72,215,395 (GRCm39)		probably benign	Het
Zscan20	G	A	4: 128,482,109 (GRCm39)	R518C	probably benign	Het
Zw10	T	C	9: 48,975,463 (GRCm39)	I296T	possibly damaging	Het

Other mutations in Rnpepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Rnpepl1	APN	1	92,843,621 (GRCm39)	missense	possibly damaging	0.69
IGL01291:Rnpepl1	APN	1	92,847,468 (GRCm39)	missense	probably benign
IGL02266:Rnpepl1	APN	1	92,844,611 (GRCm39)	missense	probably damaging	1.00
IGL02481:Rnpepl1	APN	1	92,843,629 (GRCm39)	missense	probably damaging	1.00
IGL02483:Rnpepl1	APN	1	92,843,629 (GRCm39)	missense	probably damaging	1.00
IGL03377:Rnpepl1	APN	1	92,846,953 (GRCm39)	missense	probably benign	0.01
ANU05:Rnpepl1	UTSW	1	92,847,468 (GRCm39)	missense	probably benign
R0069:Rnpepl1	UTSW	1	92,846,620 (GRCm39)	missense	possibly damaging	0.91
R0409:Rnpepl1	UTSW	1	92,843,582 (GRCm39)	missense	probably damaging	1.00
R0479:Rnpepl1	UTSW	1	92,846,587 (GRCm39)	unclassified	probably benign
R1155:Rnpepl1	UTSW	1	92,844,609 (GRCm39)	missense	probably damaging	1.00
R1170:Rnpepl1	UTSW	1	92,846,917 (GRCm39)	missense	possibly damaging	0.56
R1397:Rnpepl1	UTSW	1	92,844,881 (GRCm39)	missense	probably damaging	1.00
R1601:Rnpepl1	UTSW	1	92,844,944 (GRCm39)	missense	possibly damaging	0.95
R2184:Rnpepl1	UTSW	1	92,844,545 (GRCm39)	missense	probably benign	0.43
R2187:Rnpepl1	UTSW	1	92,844,617 (GRCm39)	missense	probably null	1.00
R2211:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R2902:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R3105:Rnpepl1	UTSW	1	92,844,102 (GRCm39)	missense	probably damaging	1.00
R3196:Rnpepl1	UTSW	1	92,844,881 (GRCm39)	missense	probably damaging	1.00
R3439:Rnpepl1	UTSW	1	92,844,662 (GRCm39)	missense	possibly damaging	0.94
R4887:Rnpepl1	UTSW	1	92,842,835 (GRCm39)	missense	probably damaging	1.00
R4966:Rnpepl1	UTSW	1	92,844,483 (GRCm39)	missense	probably damaging	1.00
R5212:Rnpepl1	UTSW	1	92,839,045 (GRCm39)	missense	probably benign	0.03
R5385:Rnpepl1	UTSW	1	92,844,914 (GRCm39)	missense	probably damaging	1.00
R5655:Rnpepl1	UTSW	1	92,847,032 (GRCm39)	missense	probably damaging	1.00
R5694:Rnpepl1	UTSW	1	92,846,663 (GRCm39)	missense	probably benign	0.03
R5940:Rnpepl1	UTSW	1	92,845,434 (GRCm39)	missense	probably damaging	1.00
R6046:Rnpepl1	UTSW	1	92,844,543 (GRCm39)	missense	probably damaging	1.00
R6086:Rnpepl1	UTSW	1	92,845,403 (GRCm39)	missense	probably damaging	1.00
R6104:Rnpepl1	UTSW	1	92,843,606 (GRCm39)	missense	probably benign
R6349:Rnpepl1	UTSW	1	92,847,563 (GRCm39)	missense	probably damaging	1.00
R7381:Rnpepl1	UTSW	1	92,846,917 (GRCm39)	missense	possibly damaging	0.56
R7402:Rnpepl1	UTSW	1	92,847,372 (GRCm39)	missense	probably benign	0.01
R7474:Rnpepl1	UTSW	1	92,846,694 (GRCm39)	missense	probably benign	0.14
R7714:Rnpepl1	UTSW	1	92,844,890 (GRCm39)	missense	probably damaging	1.00
R9408:Rnpepl1	UTSW	1	92,845,424 (GRCm39)	missense	probably benign	0.19
R9566:Rnpepl1	UTSW	1	92,847,468 (GRCm39)	missense
R9591:Rnpepl1	UTSW	1	92,847,309 (GRCm39)	missense	probably damaging	1.00
R9773:Rnpepl1	UTSW	1	92,847,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGACAGCACTCTTCCTG -3'
(R):5'- CTGGACTCACATGCTACAGTGC -3'

Sequencing Primer
(F):5'- CTGCTAGATGGATCCCCGTTG -3'
(R):5'- TGCTACAGTGCCCCCATCAG -3'

Posted On

2016-07-22