Mutagenetix > Incidental Mutation

Incidental Mutation 'R6197:Ylpm1'

502995

Institutional Source

Beutler Lab

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

A930013E17Rik, Zap3, ZAP

MMRRC Submission

044337-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85043095-85117289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85088953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1234 (D1234G)

Ref Sequence

ENSEMBL: ENSMUSP00000126347 (fasta)

Gene Model

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

AlphaFold

Q9R0I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021670
AA Change: D1692G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: D1692G

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: D939G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: D939G

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: ENSMUST00000164558
AA Change: D1234G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126347
Gene: ENSMUSG00000021244
AA Change: D1234G

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 damaging
Transcript: ENSMUST00000168977
AA Change: D986G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: D986G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

92% (49/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	A	5: 3,630,442 (GRCm39)	Y119*	probably null	Het
Abcb9	C	A	5: 124,209,812 (GRCm39)	E664*	probably null	Het
Adgrl2	T	C	3: 148,564,578 (GRCm39)	D334G	probably damaging	Het
Ak9	T	G	10: 41,193,826 (GRCm39)	C57G	probably damaging	Het
Als2cl	A	G	9: 110,724,952 (GRCm39)	K809E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp11a	A	G	8: 12,896,099 (GRCm39)	I223V	probably benign	Het
Cacna2d3	A	T	14: 28,630,278 (GRCm39)	V1022E	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cd37	A	G	7: 44,886,598 (GRCm39)	C85R	probably damaging	Het
Ces1g	T	C	8: 94,063,764 (GRCm39)	S7G	probably benign	Het
Cltc	T	C	11: 86,611,188 (GRCm39)	N561S	probably benign	Het
Cnbd2	A	G	2: 156,217,494 (GRCm39)	E661G	possibly damaging	Het
Col6a3	A	T	1: 90,750,063 (GRCm39)	F257Y	probably damaging	Het
Cpt1b	T	C	15: 89,309,037 (GRCm39)	Y55C	possibly damaging	Het
Csmd1	A	G	8: 15,976,611 (GRCm39)	V2869A	probably benign	Het
Dnah11	T	C	12: 118,143,482 (GRCm39)	E387G	probably benign	Het
Eny2	T	A	15: 44,292,949 (GRCm39)		probably null	Het
Fbxo10	G	T	4: 45,043,857 (GRCm39)	H655Q	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gpx2	C	T	12: 76,842,068 (GRCm39)	G28S	probably damaging	Het
H2-Q5	G	T	17: 35,613,918 (GRCm39)	A156S	probably benign	Het
Hoxd4	A	G	2: 74,558,807 (GRCm39)	D210G	possibly damaging	Het
Hoxd9	A	G	2: 74,529,166 (GRCm39)	Q256R	probably damaging	Het
Macf1	A	G	4: 123,346,085 (GRCm39)	V2571A	probably damaging	Het
Mtus1	A	G	8: 41,537,074 (GRCm39)	V214A	possibly damaging	Het
Myh1	C	T	11: 67,111,793 (GRCm39)	A1716V	probably benign	Het
Nbeal1	A	G	1: 60,261,287 (GRCm39)	D249G	probably damaging	Het
Nup54	TCTGCTGCTGCTGCTGCTGCTGCTG	TCTGCTGCTGCTGCTGCTGCTG	5: 92,578,663 (GRCm39)		probably benign	Het
Or10v9	G	T	19: 11,833,148 (GRCm39)	H56Q	probably damaging	Het
Or4c124	A	T	2: 89,155,677 (GRCm39)	N282K	probably damaging	Het
Or5w17	C	T	2: 87,583,696 (GRCm39)	V214I	probably benign	Het
Or7a37	T	G	10: 78,805,974 (GRCm39)	L164V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,886 (GRCm39)	Y301C	possibly damaging	Het
Prss59	A	G	6: 40,897,939 (GRCm39)	I248T	probably benign	Het
Pwwp2a	A	G	11: 43,595,423 (GRCm39)	D196G	probably benign	Het
Rarg	A	T	15: 102,150,327 (GRCm39)	C93S	possibly damaging	Het
Rcc1	T	C	4: 132,065,073 (GRCm39)	D150G	possibly damaging	Het
Ripk2	A	G	4: 16,163,330 (GRCm39)	Y23H	probably damaging	Het
Rragc	A	G	4: 123,811,340 (GRCm39)	Y5C	possibly damaging	Het
Rubcnl	G	A	14: 75,269,369 (GRCm39)	G9D	probably damaging	Het
Sephs2	A	T	7: 126,872,073 (GRCm39)	V340E	probably damaging	Het
Slc22a3	C	T	17: 12,677,438 (GRCm39)	M243I	probably benign	Het
Slco6c1	A	G	1: 97,000,518 (GRCm39)		probably null	Het
Sncaip	T	G	18: 53,039,966 (GRCm39)	I308R	probably damaging	Het
Supt16	G	A	14: 52,408,338 (GRCm39)	T869M	probably damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Usp4	C	A	9: 108,248,154 (GRCm39)	Q395K	probably damaging	Het
Usp49	T	A	17: 47,984,272 (GRCm39)	S210T	possibly damaging	Het
Virma	A	G	4: 11,505,498 (GRCm39)	I124M	probably damaging	Het
Vmn1r234	G	A	17: 21,449,589 (GRCm39)	V168I	probably benign	Het
Vnn3	T	A	10: 23,732,187 (GRCm39)	C146S	probably damaging	Het
Zfp617	T	A	8: 72,687,098 (GRCm39)	V476E	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
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
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'- TCCCAGAGAGGAGAGTAATTTTAAG -3'
(R):5'- GTACTTGCCTAGAAATTGTTCTTCC -3'

Sequencing Primer
(F):5'- GTTAAAATTGCACGTCTTGC -3'
(R):5'- GCCTGGTAATCACAAGTTCCAGG -3'

Posted On

2018-02-27