Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Ylpm1'

508571

Institutional Source

Beutler Lab

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

A930013E17Rik, Zap3, ZAP

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85043095-85117289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 85062051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 651 (P651A)

Ref Sequence

ENSEMBL: ENSMUSP00000128962 (fasta)

Gene Model

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

AlphaFold

Q9R0I7

Predicted Effect

unknown
Transcript: ENSMUST00000021670
AA Change: P651A

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: P651A

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

unknown
Transcript: ENSMUST00000101202
AA Change: P604A

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: P604A

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

unknown
Transcript: ENSMUST00000164558
AA Change: P193A

SMART Domains

Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: P193A

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

unknown
Transcript: ENSMUST00000168977
AA Change: P651A

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: P651A

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

Meta Mutation Damage Score

0.1061

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Ylpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ylpm1	APN	12	85,075,728 (GRCm39)	missense	possibly damaging	0.93
IGL00809:Ylpm1	APN	12	85,095,968 (GRCm39)	missense	probably damaging	0.99
IGL01508:Ylpm1	APN	12	85,062,229 (GRCm39)	missense	possibly damaging	0.74
IGL02199:Ylpm1	APN	12	85,080,779 (GRCm39)	nonsense	probably null
IGL02392:Ylpm1	APN	12	85,061,731 (GRCm39)	missense	unknown
IGL02455:Ylpm1	APN	12	85,077,037 (GRCm39)	missense	probably damaging	1.00
IGL02506:Ylpm1	APN	12	85,095,965 (GRCm39)	missense	probably damaging	1.00
IGL03102:Ylpm1	APN	12	85,096,032 (GRCm39)	splice site	probably benign
I1329:Ylpm1	UTSW	12	85,087,654 (GRCm39)	missense	probably damaging	1.00
IGL02799:Ylpm1	UTSW	12	85,091,258 (GRCm39)	missense	probably damaging	1.00
R0010:Ylpm1	UTSW	12	85,075,800 (GRCm39)	missense	probably damaging	0.97
R0090:Ylpm1	UTSW	12	85,075,814 (GRCm39)	intron	probably benign
R0149:Ylpm1	UTSW	12	85,075,612 (GRCm39)	missense	probably damaging	0.99
R0226:Ylpm1	UTSW	12	85,096,511 (GRCm39)	missense	probably benign	0.21
R0375:Ylpm1	UTSW	12	85,061,754 (GRCm39)	missense	unknown
R0378:Ylpm1	UTSW	12	85,043,850 (GRCm39)	intron	probably benign
R0507:Ylpm1	UTSW	12	85,075,886 (GRCm39)	missense	probably benign	0.03
R0742:Ylpm1	UTSW	12	85,075,886 (GRCm39)	missense	probably benign	0.03
R1350:Ylpm1	UTSW	12	85,060,856 (GRCm39)	unclassified	probably benign
R1452:Ylpm1	UTSW	12	85,077,157 (GRCm39)	missense	possibly damaging	0.94
R1500:Ylpm1	UTSW	12	85,061,770 (GRCm39)	missense	unknown
R1837:Ylpm1	UTSW	12	85,076,107 (GRCm39)	missense	possibly damaging	0.92
R1945:Ylpm1	UTSW	12	85,062,192 (GRCm39)	missense	probably damaging	0.98
R1971:Ylpm1	UTSW	12	85,087,560 (GRCm39)	missense	probably damaging	1.00
R2211:Ylpm1	UTSW	12	85,091,152 (GRCm39)	nonsense	probably null
R2213:Ylpm1	UTSW	12	85,116,492 (GRCm39)	missense	probably benign	0.25
R2269:Ylpm1	UTSW	12	85,061,824 (GRCm39)	missense	unknown
R2300:Ylpm1	UTSW	12	85,107,093 (GRCm39)	splice site	probably null
R2439:Ylpm1	UTSW	12	85,060,891 (GRCm39)	unclassified	probably benign
R2497:Ylpm1	UTSW	12	85,043,535 (GRCm39)	missense	probably damaging	0.98
R2890:Ylpm1	UTSW	12	85,076,587 (GRCm39)	missense	probably damaging	0.99
R3111:Ylpm1	UTSW	12	85,076,145 (GRCm39)	missense	probably damaging	0.98
R3436:Ylpm1	UTSW	12	85,096,644 (GRCm39)	critical splice donor site	probably null
R3437:Ylpm1	UTSW	12	85,096,644 (GRCm39)	critical splice donor site	probably null
R4156:Ylpm1	UTSW	12	85,104,177 (GRCm39)	intron	probably benign
R4157:Ylpm1	UTSW	12	85,104,177 (GRCm39)	intron	probably benign
R4959:Ylpm1	UTSW	12	85,096,719 (GRCm39)	missense	probably damaging	1.00
R5014:Ylpm1	UTSW	12	85,061,523 (GRCm39)	missense	unknown
R5039:Ylpm1	UTSW	12	85,089,013 (GRCm39)	missense	probably damaging	1.00
R5039:Ylpm1	UTSW	12	85,062,267 (GRCm39)	missense	probably damaging	0.98
R5084:Ylpm1	UTSW	12	85,076,095 (GRCm39)	missense	probably damaging	0.99
R5325:Ylpm1	UTSW	12	85,060,735 (GRCm39)	unclassified	probably benign
R5378:Ylpm1	UTSW	12	85,077,029 (GRCm39)	missense	probably damaging	0.99
R5428:Ylpm1	UTSW	12	85,077,003 (GRCm39)	missense	probably benign	0.04
R5467:Ylpm1	UTSW	12	85,043,633 (GRCm39)	missense	unknown
R5605:Ylpm1	UTSW	12	85,075,627 (GRCm39)	missense	probably damaging	1.00
R5614:Ylpm1	UTSW	12	85,111,718 (GRCm39)	intron	probably benign
R5748:Ylpm1	UTSW	12	85,107,025 (GRCm39)	splice site	probably null
R5860:Ylpm1	UTSW	12	85,087,660 (GRCm39)	missense	probably damaging	1.00
R5861:Ylpm1	UTSW	12	85,087,660 (GRCm39)	missense	probably damaging	1.00
R5881:Ylpm1	UTSW	12	85,088,899 (GRCm39)	missense	probably damaging	1.00
R5909:Ylpm1	UTSW	12	85,087,660 (GRCm39)	missense	probably damaging	1.00
R5912:Ylpm1	UTSW	12	85,087,660 (GRCm39)	missense	probably damaging	1.00
R5915:Ylpm1	UTSW	12	85,087,660 (GRCm39)	missense	probably damaging	1.00
R6000:Ylpm1	UTSW	12	85,044,030 (GRCm39)	missense	unknown
R6004:Ylpm1	UTSW	12	85,075,858 (GRCm39)	missense	possibly damaging	0.78
R6007:Ylpm1	UTSW	12	85,076,064 (GRCm39)	missense	probably benign	0.33
R6053:Ylpm1	UTSW	12	85,043,277 (GRCm39)	missense	possibly damaging	0.72
R6104:Ylpm1	UTSW	12	85,076,404 (GRCm39)	missense	probably benign	0.00
R6197:Ylpm1	UTSW	12	85,088,953 (GRCm39)	missense	probably damaging	1.00
R6297:Ylpm1	UTSW	12	85,062,051 (GRCm39)	missense	unknown
R6305:Ylpm1	UTSW	12	85,077,319 (GRCm39)	missense	probably damaging	1.00
R6379:Ylpm1	UTSW	12	85,077,574 (GRCm39)	missense	probably damaging	1.00
R6465:Ylpm1	UTSW	12	85,096,576 (GRCm39)	missense	probably damaging	1.00
R6608:Ylpm1	UTSW	12	85,062,051 (GRCm39)	missense	unknown
R6609:Ylpm1	UTSW	12	85,062,051 (GRCm39)	missense	unknown
R6737:Ylpm1	UTSW	12	85,077,620 (GRCm39)	missense	probably damaging	0.98
R6794:Ylpm1	UTSW	12	85,043,655 (GRCm39)	missense	unknown
R7383:Ylpm1	UTSW	12	85,091,242 (GRCm39)	missense	possibly damaging	0.93
R7514:Ylpm1	UTSW	12	85,077,268 (GRCm39)	missense	possibly damaging	0.94
R7577:Ylpm1	UTSW	12	85,043,994 (GRCm39)	missense	unknown
R7709:Ylpm1	UTSW	12	85,059,799 (GRCm39)	missense	unknown
R7718:Ylpm1	UTSW	12	85,075,896 (GRCm39)	missense	probably damaging	0.99
R7736:Ylpm1	UTSW	12	85,059,757 (GRCm39)	missense	unknown
R7758:Ylpm1	UTSW	12	85,061,796 (GRCm39)	missense	unknown
R7807:Ylpm1	UTSW	12	85,060,855 (GRCm39)	nonsense	probably null
R7838:Ylpm1	UTSW	12	85,095,640 (GRCm39)	missense	possibly damaging	0.90
R7846:Ylpm1	UTSW	12	85,104,042 (GRCm39)	missense	probably damaging	0.98
R8170:Ylpm1	UTSW	12	85,080,801 (GRCm39)	missense	probably benign	0.40
R8776:Ylpm1	UTSW	12	85,077,195 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Ylpm1	UTSW	12	85,077,195 (GRCm39)	missense	probably damaging	1.00
R8812:Ylpm1	UTSW	12	85,043,566 (GRCm39)	missense	unknown
R8847:Ylpm1	UTSW	12	85,061,672 (GRCm39)	missense	unknown
R8874:Ylpm1	UTSW	12	85,116,394 (GRCm39)	missense	probably damaging	1.00
R9129:Ylpm1	UTSW	12	85,104,052 (GRCm39)	missense
R9165:Ylpm1	UTSW	12	85,077,342 (GRCm39)	missense	probably damaging	1.00
R9198:Ylpm1	UTSW	12	85,080,689 (GRCm39)	critical splice acceptor site	probably null
R9564:Ylpm1	UTSW	12	85,091,176 (GRCm39)	missense	probably benign	0.30
R9629:Ylpm1	UTSW	12	85,044,036 (GRCm39)	missense	unknown
R9797:Ylpm1	UTSW	12	85,077,109 (GRCm39)	missense	possibly damaging	0.86
Z1088:Ylpm1	UTSW	12	85,076,929 (GRCm39)	missense	possibly damaging	0.95
Z1176:Ylpm1	UTSW	12	85,077,058 (GRCm39)	missense	possibly damaging	0.93
Z1177:Ylpm1	UTSW	12	85,104,057 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTTCAGGGCCACCTCCAG -3'
(R):5'- CCTTAGCTGCAATGATGGACTG -3'

Sequencing Primer
(F):5'- AGGGCCACCTCCAGTTCTC -3'
(R):5'- CTTGCTCAGATGAGAACACCTTG -3'

Posted On

2018-03-15