Mutagenetix > Incidental Mutations

Incidental Mutation 'R3437:Ylpm1'

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267250

Institutional Source

Beutler Lab

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

ZAP, A930013E17Rik, Zap3

MMRRC Submission

040655-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R3437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84996321-85070515 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 85049870 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128962 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000021670

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244

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

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244

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 benign
Transcript: ENSMUST00000164558

SMART Domains

Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244

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

noncoding transcript
Transcript: ENSMUST00000165803

Predicted Effect

probably null
Transcript: ENSMUST00000168977

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244

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

Meta Mutation Damage Score

0.428

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,639,294	L127R	probably null	Het
Ambp	T	C	4: 63,149,484	E163G	probably benign	Het
Amy1	G	A	3: 113,556,009	A504V	probably damaging	Het
Angptl3	A	T	4: 99,033,303	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,550,018	N86S	probably benign	Het
Avl9	T	C	6: 56,736,627	V290A	probably benign	Het
Bad	A	G	19: 6,942,431	R37G	probably benign	Het
Bicra	T	C	7: 15,989,298	D98G	possibly damaging	Het
Col4a4	G	A	1: 82,497,168	T650M	unknown	Het
Cyp11b2	T	C	15: 74,855,449	R128G	probably benign	Het
Dst	T	C	1: 34,190,222	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,201,611	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,960,467	H221Q	probably benign	Het
Homer1	T	C	13: 93,366,421		probably benign	Het
Kit	A	G	5: 75,645,905	D690G	probably damaging	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Mc3r	C	T	2: 172,249,668	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,589,566	L204W	probably damaging	Het
Mroh1	C	T	15: 76,433,608	T839I	possibly damaging	Het
Naip2	T	A	13: 100,154,911	H1173L	probably benign	Het
Olfr136	A	G	17: 38,335,432	I92V	probably damaging	Het
Olfr312	A	T	11: 58,831,324	M57L	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
P4ha3	C	T	7: 100,285,624	A31V	possibly damaging	Het
Plch2	A	G	4: 154,991,013		probably null	Het
Plpp2	A	T	10: 79,527,813		probably null	Het
Polq	A	T	16: 37,062,337	N1342I	probably damaging	Het
Pter	T	A	2: 13,000,994	L326H	probably benign	Het
Pwwp2a	C	T	11: 43,706,188	Q452*	probably null	Het
Slc8a2	T	G	7: 16,158,885	V824G	probably damaging	Het
Slfn2	A	T	11: 83,069,564	H123L	probably benign	Het
Tmem132e	A	G	11: 82,444,330	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739	V100I	possibly damaging	Het
Tro	G	A	X: 150,646,256		probably benign	Het
Uspl1	T	A	5: 149,214,697		probably benign	Het
Uty	A	G	Y: 1,158,336	I522T	probably benign	Het
Vmn1r120	A	C	7: 21,053,657	L43W	probably damaging	Het
Vmn2r16	A	T	5: 109,330,496	D39V	probably damaging	Het
Washc4	T	A	10: 83,570,002	I454N	probably benign	Het
Wdr66	A	G	5: 123,254,372		probably benign	Het
Wnt16	T	C	6: 22,298,134	V333A	probably damaging	Het
Zfy1	A	T	Y: 726,357	D469E	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
R2211:Ylpm1	UTSW	12	85044378	nonsense	probably null
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
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
Z1088:Ylpm1	UTSW	12	85030155	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AATAACCTCCTTTTCTCTGTGGGG -3'
(R):5'- GGGATTCTCCAGCATACCATG -3'

Sequencing Primer
(F):5'- CTCCTTTTCTCTGTGGGGTCTTAG -3'
(R):5'- GCATACCATGTTTCTAAAAATCACC -3'

Posted On

2015-02-18