Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Ylpm1'

484262

Institutional Source

Beutler Lab

Gene Symbol

Ylpm1

Ensembl Gene

ENSMUSG00000021244

Gene Name

YLP motif containing 1

Synonyms

A930013E17Rik, Zap3, ZAP

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6053 (G1)

Quality Score

156.008

Status

Not validated

Chromosome

Chromosomal Location

85043095-85117289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85043277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 5 (W5L)

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: W5L

SMART Domains

Protein: ENSMUSP00000021670
Gene: ENSMUSG00000021244
AA Change: W5L

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

possibly damaging
Transcript: ENSMUST00000101202
AA Change: W5L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098763
Gene: ENSMUSG00000021244
AA Change: W5L

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: ENSMUST00000168977
AA Change: W5L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128962
Gene: ENSMUSG00000021244
AA Change: W5L

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	probably 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
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
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'- TGTTCTCCGCTCGATGGTAC -3'
(R):5'- TCTGATAACTGAGGGCTGGTC -3'

Sequencing Primer
(F):5'- ATGCGTAGTTGCCTCAGC -3'
(R):5'- GCACGCACTGCATTTGC -3'

Posted On

2017-07-14