Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Uevld'

508047

Institutional Source

Beutler Lab

Gene Symbol

Uevld

Ensembl Gene

ENSMUSG00000043262

Gene Name

UEV and lactate/malate dehyrogenase domains

Synonyms

Attp, 8430408E05Rik

MMRRC Submission

044453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46923216-46958527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46937981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 324 (Q324K)

Ref Sequence

ENSEMBL: ENSMUSP00000091964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094398] [ENSMUST00000207986]

AlphaFold

Q3U1V6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094398
AA Change: Q324K

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091964
Gene: ENSMUSG00000043262
AA Change: Q324K

Domain	Start	End	E-Value	Type
UBCc	18	171	3.36e-2	SMART
Pfam:Ldh_1_N	183	316	2.6e-19	PFAM
Pfam:Ldh_1_C	319	469	3.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207986

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	A	9: 103,282,635	R14*	probably null	Het
Acsf3	C	A	8: 122,785,955	R372S	probably damaging	Het
Adamts20	A	G	15: 94,351,721	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,665,031	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486	E305G	possibly damaging	Het
Ccdc83	T	A	7: 90,236,407	R257*	probably null	Het
Cd209e	G	A	8: 3,849,212	Q167*	probably null	Het
Cd300e	G	A	11: 115,054,554	T138I	probably benign	Het
Ces2c	A	T	8: 104,849,699	M115L	probably benign	Het
Cfap61	T	A	2: 146,129,102		probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	T	7: 25,286,034	S301L	probably damaging	Het
Cks2	A	G	13: 51,645,459	H16R	probably benign	Het
Copa	A	T	1: 172,118,848	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,995,880	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 96,056,837	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,274,805	V404A	probably benign	Het
Dock2	T	C	11: 34,707,325	S340G	probably damaging	Het
Ggps1	A	G	13: 14,057,794		probably null	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11444	T	C	11: 85,846,791		probably null	Het
Gm853	A	G	4: 130,221,741	S5P	probably benign	Het
Grina	A	G	15: 76,248,551	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,135,340	T223I	probably benign	Het
Igsf10	T	A	3: 59,319,449	T2268S	probably damaging	Het
Ino80d	C	T	1: 63,062,126	R447Q	probably damaging	Het
Inpp4b	C	T	8: 81,770,833	T94M	probably damaging	Het
Itga2	A	G	13: 114,869,250	Y465H	probably damaging	Het
Knl1	A	G	2: 119,070,286	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,851,035	S180P	unknown	Het
Lpar6	A	T	14: 73,238,857	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,816,864	C2500*	probably null	Het
Mzf1	T	C	7: 13,053,369		probably benign	Het
Olfr1032	G	T	2: 86,008,099	V108L	possibly damaging	Het
Olfr1176	T	A	2: 88,339,658	I31N	probably benign	Het
Olfr1311	A	C	2: 112,021,260	M198R	possibly damaging	Het
Olfr1352	T	C	10: 78,984,279	V163A	probably benign	Het
Otogl	T	G	10: 107,790,500	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,381,554	S768T	possibly damaging	Het
Pcnx2	G	T	8: 125,877,586	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,660,226	I180F	possibly damaging	Het
Pinx1	A	C	14: 63,878,172	N152T	probably benign	Het
Prr14l	T	C	5: 32,830,264	E629G	probably benign	Het
Qpctl	T	A	7: 19,148,420	I104F	probably benign	Het
Rabep1	C	T	11: 70,917,679	A444V	probably damaging	Het
Rnf150	A	G	8: 82,990,554	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,657,730	V152G	probably damaging	Het
Swt1	A	G	1: 151,384,333	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,874,494	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Tmem265	T	G	7: 127,564,872	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,348,332	H551Y	probably benign	Het
Ttc6	T	G	12: 57,702,262	Y1327D	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,871,841	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,304,104	M120K	probably benign	Het
Zfp804b	T	A	5: 6,769,908	I1016F	probably benign	Het
Zfp90	T	C	8: 106,425,394	C580R	probably damaging	Het

Other mutations in Uevld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02858:Uevld	APN	7	46955629	missense	probably benign	0.31
IGL03294:Uevld	APN	7	46931030	missense	possibly damaging	0.84
R1344:Uevld	UTSW	7	46938010	missense	possibly damaging	0.93
R1418:Uevld	UTSW	7	46938010	missense	possibly damaging	0.93
R1698:Uevld	UTSW	7	46955624	missense	possibly damaging	0.92
R1848:Uevld	UTSW	7	46945227	unclassified	probably benign
R2872:Uevld	UTSW	7	46947945	missense	probably null	0.68
R2872:Uevld	UTSW	7	46947945	missense	probably null	0.68
R4426:Uevld	UTSW	7	46940142	missense	probably benign	0.15
R4664:Uevld	UTSW	7	46937986	missense	probably damaging	1.00
R5861:Uevld	UTSW	7	46926356	missense	probably benign	0.03
R7148:Uevld	UTSW	7	46950976	missense	probably damaging	0.99
R7706:Uevld	UTSW	7	46948027	missense	possibly damaging	0.52
R7718:Uevld	UTSW	7	46938056	missense	probably benign	0.03
R7727:Uevld	UTSW	7	46943805	missense	probably benign	0.13
R7775:Uevld	UTSW	7	46926352	missense	probably damaging	1.00
R7778:Uevld	UTSW	7	46926352	missense	probably damaging	1.00
R8349:Uevld	UTSW	7	46945307	missense	probably damaging	0.98
R8449:Uevld	UTSW	7	46945307	missense	probably damaging	0.98
R9061:Uevld	UTSW	7	46938058	missense	probably damaging	1.00
R9170:Uevld	UTSW	7	46937998	missense	probably damaging	1.00
R9773:Uevld	UTSW	7	46947911	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTCTAAGTGTAAAGTCCCAG -3'
(R):5'- CAGATGAGCCAGGCTACAAG -3'

Sequencing Primer
(F):5'- GTGTAAAGTCCCAGCACACATCTG -3'
(R):5'- GTCCTGGAACTCACCCTGTAGAC -3'

Posted On

2018-03-15