Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01508:Ylpm1'

89109

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

A930013E17Rik, Zap3, ZAP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01508

Quality Score

Status

Chromosome

Chromosomal Location

85043095-85117289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85062229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 252 (F252S)

Ref Sequence

ENSEMBL: ENSMUSP00000126347 (fasta)

Gene Model

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

AlphaFold

Q9R0I7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021670
AA Change: F710S

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: F710S

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 benign
Transcript: ENSMUST00000101202
AA Change: F663S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: F663S

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

possibly damaging
Transcript: ENSMUST00000164558
AA Change: F252S

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: F252S

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 benign
Transcript: ENSMUST00000168977
AA Change: F710S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: F710S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,636,326 (GRCm39)	R732*	probably null	Het
Adarb2	C	A	13: 8,802,606 (GRCm39)		probably null	Het
Alb	C	T	5: 90,618,697 (GRCm39)	A430V	probably benign	Het
Cdhr3	A	T	12: 33,103,427 (GRCm39)	F397I	possibly damaging	Het
Cmya5	A	G	13: 93,230,535 (GRCm39)	S1518P	probably benign	Het
Col6a4	T	A	9: 105,890,804 (GRCm39)	Y1830F	possibly damaging	Het
Col6a6	A	G	9: 105,604,365 (GRCm39)		probably benign	Het
Dnah7a	T	C	1: 53,666,231 (GRCm39)	S599G	probably benign	Het
Dnai4	G	A	4: 102,929,884 (GRCm39)	P369L	possibly damaging	Het
Fbxo3	A	T	2: 103,864,021 (GRCm39)	H92L	probably benign	Het
Ffar2	T	C	7: 30,518,601 (GRCm39)	D313G	probably benign	Het
Fnta	T	C	8: 26,497,294 (GRCm39)	E185G	probably damaging	Het
Gdap2	C	T	3: 100,078,243 (GRCm39)	T69I	possibly damaging	Het
Gimap7	A	T	6: 48,701,230 (GRCm39)	N272I	probably damaging	Het
Gin1	T	C	1: 97,705,162 (GRCm39)	V84A	probably benign	Het
Itga8	A	G	2: 12,237,613 (GRCm39)	L369P	possibly damaging	Het
Itgax	C	T	7: 127,743,990 (GRCm39)	T891I	probably damaging	Het
Lama1	T	A	17: 68,116,356 (GRCm39)		probably benign	Het
Lkaaear1	T	C	2: 181,338,830 (GRCm39)	T169A	probably benign	Het
Nckap5	A	G	1: 125,953,309 (GRCm39)	V1017A	probably damaging	Het
Nemf	A	C	12: 69,391,760 (GRCm39)		probably benign	Het
Osr1	A	G	12: 9,629,370 (GRCm39)	D81G	probably damaging	Het
Pate4	A	T	9: 35,519,602 (GRCm39)	C29*	probably null	Het
Prkce	C	T	17: 86,937,513 (GRCm39)	R649C	probably damaging	Het
Ptpn5	A	G	7: 46,741,303 (GRCm39)	V14A	probably benign	Het
Rnf166	C	A	8: 123,197,081 (GRCm39)	C57F	probably damaging	Het
Tenm3	A	G	8: 48,729,680 (GRCm39)	I1426T	probably benign	Het
Trpm6	C	T	19: 18,773,894 (GRCm39)	Q424*	probably null	Het
Ttc27	T	A	17: 75,142,352 (GRCm39)	S606T	probably damaging	Het
Tyrp1	T	C	4: 80,759,002 (GRCm39)	S292P	possibly damaging	Het
Wdr70	A	G	15: 8,108,747 (GRCm39)	V133A	probably benign	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
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
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

Posted On

2013-12-03