Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Ylpm1'

239401

Institutional Source

Beutler Lab

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

ZAP, A930013E17Rik, Zap3

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84996321-85070515 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85044378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1073 (R1073*)

Ref Sequence

ENSEMBL: ENSMUSP00000128962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021670] [ENSMUST00000101202] [ENSMUST00000164558] [ENSMUST00000168977]

AlphaFold

Q9R0I7

Predicted Effect

probably null
Transcript: ENSMUST00000021670
AA Change: R1779*

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: R1779*

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	31	50	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
low complexity region	94	114	N/A	INTRINSIC
low complexity region	139	225	N/A	INTRINSIC
low complexity region	226	253	N/A	INTRINSIC
low complexity region	341	382	N/A	INTRINSIC
low complexity region	389	407	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	455	464	N/A	INTRINSIC
low complexity region	538	654	N/A	INTRINSIC
low complexity region	688	696	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
internal_repeat_1	771	840	4.03e-5	PROSPERO
low complexity region	841	854	N/A	INTRINSIC
low complexity region	966	972	N/A	INTRINSIC
internal_repeat_1	1062	1124	4.03e-5	PROSPERO
low complexity region	1252	1266	N/A	INTRINSIC
low complexity region	1275	1293	N/A	INTRINSIC
low complexity region	1326	1338	N/A	INTRINSIC
low complexity region	1339	1353	N/A	INTRINSIC
low complexity region	1408	1425	N/A	INTRINSIC
coiled coil region	1447	1474	N/A	INTRINSIC
low complexity region	1494	1517	N/A	INTRINSIC
low complexity region	1518	1532	N/A	INTRINSIC
low complexity region	1536	1557	N/A	INTRINSIC
low complexity region	1598	1630	N/A	INTRINSIC
low complexity region	1678	1694	N/A	INTRINSIC
low complexity region	1705	1717	N/A	INTRINSIC
low complexity region	1720	1736	N/A	INTRINSIC
low complexity region	1797	1808	N/A	INTRINSIC
Pfam:AAA_33	1829	1990	7.8e-11	PFAM
coiled coil region	1995	2032	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000101202
AA Change: R1026*

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: R1026*

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	31	50	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
low complexity region	94	114	N/A	INTRINSIC
low complexity region	139	206	N/A	INTRINSIC
low complexity region	294	335	N/A	INTRINSIC
low complexity region	342	360	N/A	INTRINSIC
low complexity region	375	388	N/A	INTRINSIC
low complexity region	408	417	N/A	INTRINSIC
low complexity region	491	607	N/A	INTRINSIC
low complexity region	641	649	N/A	INTRINSIC
low complexity region	741	764	N/A	INTRINSIC
low complexity region	765	779	N/A	INTRINSIC
low complexity region	783	804	N/A	INTRINSIC
low complexity region	845	877	N/A	INTRINSIC
low complexity region	925	941	N/A	INTRINSIC
low complexity region	952	964	N/A	INTRINSIC
low complexity region	967	983	N/A	INTRINSIC
low complexity region	1044	1055	N/A	INTRINSIC
Pfam:AAA_33	1076	1265	4.9e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164558
AA Change: R1321*

SMART Domains

Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: R1321*

Domain	Start	End	E-Value	Type
low complexity region	80	196	N/A	INTRINSIC
low complexity region	230	238	N/A	INTRINSIC
low complexity region	293	305	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
low complexity region	508	514	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	817	835	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC
low complexity region	881	895	N/A	INTRINSIC
low complexity region	950	967	N/A	INTRINSIC
coiled coil region	989	1016	N/A	INTRINSIC
low complexity region	1036	1059	N/A	INTRINSIC
low complexity region	1060	1074	N/A	INTRINSIC
low complexity region	1078	1099	N/A	INTRINSIC
low complexity region	1140	1172	N/A	INTRINSIC
low complexity region	1220	1236	N/A	INTRINSIC
low complexity region	1247	1259	N/A	INTRINSIC
low complexity region	1262	1278	N/A	INTRINSIC
low complexity region	1339	1350	N/A	INTRINSIC
Pfam:AAA_33	1371	1559	5.2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000168977
AA Change: R1073*

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: R1073*

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	31	50	N/A	INTRINSIC
low complexity region	57	78	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
low complexity region	94	114	N/A	INTRINSIC
low complexity region	139	225	N/A	INTRINSIC
low complexity region	226	253	N/A	INTRINSIC
low complexity region	341	382	N/A	INTRINSIC
low complexity region	389	407	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	455	464	N/A	INTRINSIC
low complexity region	538	654	N/A	INTRINSIC
low complexity region	688	696	N/A	INTRINSIC
low complexity region	788	811	N/A	INTRINSIC
low complexity region	812	826	N/A	INTRINSIC
low complexity region	830	851	N/A	INTRINSIC
low complexity region	892	924	N/A	INTRINSIC
low complexity region	972	988	N/A	INTRINSIC
low complexity region	999	1011	N/A	INTRINSIC
low complexity region	1014	1030	N/A	INTRINSIC
low complexity region	1091	1102	N/A	INTRINSIC
Pfam:AAA_33	1123	1311	4.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169150

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam149a	G	A	8: 45,341,009	T674I	probably damaging	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,867,535	T529A	probably damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hic1	T	A	11: 75,169,384	R46W	possibly damaging	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nbr1	T	C	11: 101,567,264		probably null	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pcbp4	C	A	9: 106,460,734	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Spsb3	T	C	17: 24,890,937		probably null	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	possibly damaging	Het

Other mutations in Ylpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ylpm1	APN	12	85028954	missense	possibly damaging	0.93
IGL00809:Ylpm1	APN	12	85049194	missense	probably damaging	0.99
IGL01508:Ylpm1	APN	12	85015455	missense	possibly damaging	0.74
IGL02199:Ylpm1	APN	12	85034005	nonsense	probably null
IGL02392:Ylpm1	APN	12	85014957	missense	unknown
IGL02455:Ylpm1	APN	12	85030263	missense	probably damaging	1.00
IGL02506:Ylpm1	APN	12	85049191	missense	probably damaging	1.00
IGL03102:Ylpm1	APN	12	85049258	splice site	probably benign
I1329:Ylpm1	UTSW	12	85040880	missense	probably damaging	1.00
IGL02799:Ylpm1	UTSW	12	85044484	missense	probably damaging	1.00
R0010:Ylpm1	UTSW	12	85029026	missense	probably damaging	0.97
R0090:Ylpm1	UTSW	12	85029040	intron	probably benign
R0149:Ylpm1	UTSW	12	85028838	missense	probably damaging	0.99
R0226:Ylpm1	UTSW	12	85049737	missense	probably benign	0.21
R0375:Ylpm1	UTSW	12	85014980	missense	unknown
R0378:Ylpm1	UTSW	12	84997076	intron	probably benign
R0507:Ylpm1	UTSW	12	85029112	missense	probably benign	0.03
R0742:Ylpm1	UTSW	12	85029112	missense	probably benign	0.03
R1350:Ylpm1	UTSW	12	85014082	unclassified	probably benign
R1452:Ylpm1	UTSW	12	85030383	missense	possibly damaging	0.94
R1500:Ylpm1	UTSW	12	85014996	missense	unknown
R1837:Ylpm1	UTSW	12	85029333	missense	possibly damaging	0.92
R1945:Ylpm1	UTSW	12	85015418	missense	probably damaging	0.98
R1971:Ylpm1	UTSW	12	85040786	missense	probably damaging	1.00
R2213:Ylpm1	UTSW	12	85069718	missense	probably benign	0.25
R2269:Ylpm1	UTSW	12	85015050	missense	unknown
R2300:Ylpm1	UTSW	12	85060319	splice site	probably null
R2439:Ylpm1	UTSW	12	85014117	unclassified	probably benign
R2497:Ylpm1	UTSW	12	84996761	missense	probably damaging	0.98
R2890:Ylpm1	UTSW	12	85029813	missense	probably damaging	0.99
R3111:Ylpm1	UTSW	12	85029371	missense	probably damaging	0.98
R3436:Ylpm1	UTSW	12	85049870	critical splice donor site	probably null
R3437:Ylpm1	UTSW	12	85049870	critical splice donor site	probably null
R4156:Ylpm1	UTSW	12	85057403	intron	probably benign
R4157:Ylpm1	UTSW	12	85057403	intron	probably benign
R4959:Ylpm1	UTSW	12	85049945	missense	probably damaging	1.00
R5014:Ylpm1	UTSW	12	85014749	missense	unknown
R5039:Ylpm1	UTSW	12	85015493	missense	probably damaging	0.98
R5039:Ylpm1	UTSW	12	85042239	missense	probably damaging	1.00
R5084:Ylpm1	UTSW	12	85029321	missense	probably damaging	0.99
R5325:Ylpm1	UTSW	12	85013961	unclassified	probably benign
R5378:Ylpm1	UTSW	12	85030255	missense	probably damaging	0.99
R5428:Ylpm1	UTSW	12	85030229	missense	probably benign	0.04
R5467:Ylpm1	UTSW	12	84996859	missense	unknown
R5605:Ylpm1	UTSW	12	85028853	missense	probably damaging	1.00
R5614:Ylpm1	UTSW	12	85064944	intron	probably benign
R5748:Ylpm1	UTSW	12	85060251	splice site	probably null
R5860:Ylpm1	UTSW	12	85040886	missense	probably damaging	1.00
R5861:Ylpm1	UTSW	12	85040886	missense	probably damaging	1.00
R5881:Ylpm1	UTSW	12	85042125	missense	probably damaging	1.00
R5909:Ylpm1	UTSW	12	85040886	missense	probably damaging	1.00
R5912:Ylpm1	UTSW	12	85040886	missense	probably damaging	1.00
R5915:Ylpm1	UTSW	12	85040886	missense	probably damaging	1.00
R6000:Ylpm1	UTSW	12	84997256	missense	unknown
R6004:Ylpm1	UTSW	12	85029084	missense	possibly damaging	0.78
R6007:Ylpm1	UTSW	12	85029290	missense	probably benign	0.33
R6053:Ylpm1	UTSW	12	84996503	missense	possibly damaging	0.72
R6104:Ylpm1	UTSW	12	85029630	missense	probably benign	0.00
R6197:Ylpm1	UTSW	12	85042179	missense	probably damaging	1.00
R6293:Ylpm1	UTSW	12	85015277	missense	unknown
R6297:Ylpm1	UTSW	12	85015277	missense	unknown
R6305:Ylpm1	UTSW	12	85030545	missense	probably damaging	1.00
R6379:Ylpm1	UTSW	12	85030800	missense	probably damaging	1.00
R6465:Ylpm1	UTSW	12	85049802	missense	probably damaging	1.00
R6608:Ylpm1	UTSW	12	85015277	missense	unknown
R6609:Ylpm1	UTSW	12	85015277	missense	unknown
R6737:Ylpm1	UTSW	12	85030846	missense	probably damaging	0.98
R6794:Ylpm1	UTSW	12	84996881	missense	unknown
R7383:Ylpm1	UTSW	12	85044468	missense	possibly damaging	0.93
R7514:Ylpm1	UTSW	12	85030494	missense	possibly damaging	0.94
R7577:Ylpm1	UTSW	12	84997220	missense	unknown
R7709:Ylpm1	UTSW	12	85013025	missense	unknown
R7718:Ylpm1	UTSW	12	85029122	missense	probably damaging	0.99
R7736:Ylpm1	UTSW	12	85012983	missense	unknown
R7758:Ylpm1	UTSW	12	85015022	missense	unknown
R7807:Ylpm1	UTSW	12	85014081	nonsense	probably null
R7838:Ylpm1	UTSW	12	85048866	missense	possibly damaging	0.90
R7846:Ylpm1	UTSW	12	85057268	missense	probably damaging	0.98
R8170:Ylpm1	UTSW	12	85034027	missense	probably benign	0.40
R8776:Ylpm1	UTSW	12	85030421	missense	probably damaging	1.00
R8776-TAIL:Ylpm1	UTSW	12	85030421	missense	probably damaging	1.00
R8812:Ylpm1	UTSW	12	84996792	missense	unknown
R8847:Ylpm1	UTSW	12	85014898	missense	unknown
R8874:Ylpm1	UTSW	12	85069620	missense	probably damaging	1.00
R9129:Ylpm1	UTSW	12	85057278	missense
R9165:Ylpm1	UTSW	12	85030568	missense	probably damaging	1.00
R9198:Ylpm1	UTSW	12	85033915	critical splice acceptor site	probably null
R9564:Ylpm1	UTSW	12	85044402	missense	probably benign	0.30
R9629:Ylpm1	UTSW	12	84997262	missense	unknown
R9797:Ylpm1	UTSW	12	85030335	missense	possibly damaging	0.86
Z1088:Ylpm1	UTSW	12	85030155	missense	possibly damaging	0.95
Z1176:Ylpm1	UTSW	12	85030284	missense	possibly damaging	0.93
Z1177:Ylpm1	UTSW	12	85057283	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAATGGGCCAGTCTTTTCATTTTC -3'
(R):5'- GGAGCCAGTATTTCTATGTTGCAG -3'

Sequencing Primer
(F):5'- GCCAGTCTTTTCATTTTCTTGATTAC -3'
(R):5'- GCCAGTATTTCTATGTTGCAGAAAAC -3'

Posted On

2014-10-15