Mutagenetix > Incidental Mutation

Incidental Mutation 'R2497:Ylpm1'

251098

Institutional Source

Beutler Lab

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

A930013E17Rik, Zap3, ZAP

MMRRC Submission

040411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85043095-85117289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 85043535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 91 (P91R)

Ref Sequence

ENSEMBL: ENSMUSP00000128962 (fasta)

Gene Model

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

AlphaFold

Q9R0I7

Predicted Effect

unknown
Transcript: ENSMUST00000021670
AA Change: P91R

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: P91R

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 damaging
Transcript: ENSMUST00000101202
AA Change: P91R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: P91R

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 damaging
Transcript: ENSMUST00000168977
AA Change: P91R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: P91R

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

0.0641

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,612 (GRCm38)	V295A	probably benign	Het
Agrn	T	C	4: 156,258,268 (GRCm39)	E959G	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arhgap39	C	A	15: 76,609,585 (GRCm39)	V1025L	probably damaging	Het
Atg4d	C	T	9: 21,184,682 (GRCm39)	R459*	probably null	Het
Atp11b	A	G	3: 35,909,294 (GRCm39)	S1163G	probably damaging	Het
Atp13a5	G	T	16: 29,157,889 (GRCm39)	S173*	probably null	Het
Atp6v1g2	T	A	17: 35,455,762 (GRCm39)	I8N	probably damaging	Het
Ccdc77	C	T	6: 120,302,433 (GRCm39)	G430R	possibly damaging	Het
Cdc34b	A	G	11: 94,633,207 (GRCm39)	T136A	probably benign	Het
Cdkal1	A	G	13: 29,658,524 (GRCm39)	S23P	unknown	Het
Cdkl2	T	A	5: 92,156,857 (GRCm39)	H566L	probably benign	Het
Cers6	T	C	2: 68,901,790 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,421,432 (GRCm39)	V98A	probably damaging	Het
Clspn	A	G	4: 126,466,140 (GRCm39)	T557A	possibly damaging	Het
Cmya5	T	C	13: 93,234,513 (GRCm39)	T192A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah17	T	G	11: 117,977,850 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,960,339 (GRCm39)	Q2239*	probably null	Het
Dscaml1	T	C	9: 45,656,376 (GRCm39)	V1572A	probably benign	Het
Elfn2	C	G	15: 78,558,464 (GRCm39)	E28Q	probably damaging	Het
Enam	T	A	5: 88,650,553 (GRCm39)	N687K	probably benign	Het
Flywch1	G	A	17: 23,974,685 (GRCm39)	R652W	probably benign	Het
Gm5612	T	C	9: 18,338,975 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Mmp3	A	G	9: 7,450,131 (GRCm39)	T288A	probably benign	Het
Mtmr4	T	A	11: 87,491,649 (GRCm39)	F168L	probably damaging	Het
Mtres1	T	C	10: 43,401,263 (GRCm39)		probably benign	Het
Myo1d	T	A	11: 80,565,647 (GRCm39)	N393Y	probably damaging	Het
Nacc2	A	T	2: 25,979,580 (GRCm39)	Y285*	probably null	Het
Nf1	G	T	11: 79,334,710 (GRCm39)	G844V	probably damaging	Het
Nox4	T	A	7: 86,945,084 (GRCm39)	Y113*	probably null	Het
Pcdha3	T	C	18: 37,080,556 (GRCm39)	C433R	probably benign	Het
Pde6c	A	G	19: 38,142,142 (GRCm39)	I358V	probably damaging	Het
Pdgfrb	A	T	18: 61,211,700 (GRCm39)	D819V	possibly damaging	Het
Phf3	C	A	1: 30,869,095 (GRCm39)	R651L	probably damaging	Het
Prrx1	A	G	1: 163,075,834 (GRCm39)	V244A	possibly damaging	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rab27a	T	C	9: 72,992,263 (GRCm39)	L97P	probably damaging	Het
Rnf20	G	A	4: 49,652,676 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,447,958 (GRCm39)	N259S	probably benign	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc1a4	T	C	11: 20,282,620 (GRCm39)		probably benign	Het
Smyd2	T	A	1: 189,617,534 (GRCm39)	N300I	possibly damaging	Het
Snd1	A	G	6: 28,888,078 (GRCm39)	I875V	probably benign	Het
Ssh1	T	C	5: 114,096,919 (GRCm39)	N174S	probably damaging	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Tanc2	T	C	11: 105,564,319 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tpcn1	C	T	5: 120,677,063 (GRCm39)		probably null	Het
Unc45b	A	T	11: 82,827,269 (GRCm39)	I699F	probably damaging	Het
Uspl1	C	T	5: 149,124,664 (GRCm39)	P27L	probably damaging	Het
Zdhhc23	G	A	16: 43,794,278 (GRCm39)	T132M	probably damaging	Het
Zfp148	T	C	16: 33,316,755 (GRCm39)	Y434H	probably damaging	Het
Zhx2	T	C	15: 57,686,551 (GRCm39)	V640A	possibly damaging	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
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
R6293:Ylpm1	UTSW	12	85,062,051 (GRCm39)	missense	unknown
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'- ATGTATCCGAATTGGGGCCG -3'
(R):5'- TGTAGGATCCTGGAGGTACAG -3'

Sequencing Primer
(F):5'- ATCCGAATTGGGGCCGGTATG -3'
(R):5'- CTGGAGGTACAGGGGGAGATTC -3'

Posted On

2014-12-04