Mutagenetix > Incidental Mutations

Incidental Mutation 'R1522:Dpysl3'

167583

Institutional Source

Beutler Lab

Gene Symbol

Dpysl3

Ensembl Gene

ENSMUSG00000024501

Gene Name

dihydropyrimidinase-like 3

Synonyms

TUC4, Ulip, Ulip1, CRMP-4

MMRRC Submission

040871-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43320979-43438286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43363557 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 138 (V138D)

Ref Sequence

ENSEMBL: ENSMUSP00000112928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025379] [ENSMUST00000118043] [ENSMUST00000121805]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025379
AA Change: V25D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025379
Gene: ENSMUSG00000024501
AA Change: V25D

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	35	104	8e-13	PFAM
Pfam:Amidohydro_4	59	410	3.4e-14	PFAM
Pfam:Amidohydro_1	64	413	7.3e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118043
AA Change: V23D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113711
Gene: ENSMUSG00000024501
AA Change: V23D

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	33	102	2e-13	PFAM
Pfam:Amidohydro_4	57	408	8.8e-15	PFAM
Pfam:Amidohydro_1	62	411	2.5e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121805
AA Change: V138D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112928
Gene: ENSMUSG00000024501
AA Change: V138D

Domain	Start	End	E-Value	Type
low complexity region	85	102	N/A	INTRINSIC
Pfam:Amidohydro_1	177	566	1.4e-41	PFAM
Pfam:Amidohydro_3	481	566	1.2e-9	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to the TUC (TOAD-64/Ulip/CRMP) family of proteins. Members of this family are phosphoproteins that function in axonal guidance and neuronal differentiation during development and regeneration of the nervous system. A mutation in the human gene is associated with amyotrophic lateral sclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired axon extension, abnormal neuron growth cones morphology and impaired anterograde transportation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Ush2a	T	C	1: 188,797,814	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Dpysl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Dpysl3	APN	18	43358300	missense	probably damaging	1.00
IGL02533:Dpysl3	APN	18	43325794	missense	probably benign	0.00
IGL02632:Dpysl3	APN	18	43393025	missense	possibly damaging	0.50
IGL03111:Dpysl3	APN	18	43329845	missense	probably damaging	1.00
IGL03138:Dpysl3	UTSW	18	43325794	missense	probably benign	0.00
R0001:Dpysl3	UTSW	18	43358375	missense	possibly damaging	0.93
R0062:Dpysl3	UTSW	18	43333876	splice site	probably null
R0062:Dpysl3	UTSW	18	43333876	splice site	probably null
R0656:Dpysl3	UTSW	18	43438071	missense	possibly damaging	0.65
R1694:Dpysl3	UTSW	18	43328374	missense	possibly damaging	0.94
R1764:Dpysl3	UTSW	18	43363518	missense	probably damaging	1.00
R1822:Dpysl3	UTSW	18	43342328	missense	probably benign	0.07
R1880:Dpysl3	UTSW	18	43329874	splice site	probably null
R1907:Dpysl3	UTSW	18	43438128	missense	probably damaging	1.00
R1925:Dpysl3	UTSW	18	43332931	missense	probably damaging	1.00
R2248:Dpysl3	UTSW	18	43358293	missense	possibly damaging	0.56
R3434:Dpysl3	UTSW	18	43361061	missense	probably benign	0.01
R4575:Dpysl3	UTSW	18	43342247	missense	probably damaging	1.00
R4778:Dpysl3	UTSW	18	43354802	missense	probably benign	0.06
R4780:Dpysl3	UTSW	18	43354802	missense	probably benign	0.06
R4858:Dpysl3	UTSW	18	43334014	missense	probably damaging	0.96
R4987:Dpysl3	UTSW	18	43328427	missense	probably benign	0.00
R5151:Dpysl3	UTSW	18	43438080	missense	probably benign	0.00
R5152:Dpysl3	UTSW	18	43438080	missense	probably benign	0.00
R5229:Dpysl3	UTSW	18	43332951	missense	probably damaging	1.00
R5373:Dpysl3	UTSW	18	43361036	missense	probably damaging	1.00
R5374:Dpysl3	UTSW	18	43361036	missense	probably damaging	1.00
R5383:Dpysl3	UTSW	18	43438038	missense	probably damaging	1.00
R6014:Dpysl3	UTSW	18	43361067	missense	probably damaging	1.00
R6837:Dpysl3	UTSW	18	43437882	missense	probably benign	0.01
R6958:Dpysl3	UTSW	18	43438002	missense	probably benign
R6991:Dpysl3	UTSW	18	43353891	missense	probably damaging	1.00
R7087:Dpysl3	UTSW	18	43363530	missense	probably damaging	1.00
R7196:Dpysl3	UTSW	18	43329845	missense	probably damaging	1.00
R7223:Dpysl3	UTSW	18	43438042	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TTCAGGATGCTATCACTCATGCACAC -3'
(R):5'- AGCACACAGAGGTGGTTTACCAAG -3'

Sequencing Primer
(F):5'- ATGGCATCCCCTTTAGTACAATG -3'
(R):5'- ACCAAGTGTGTTCCTGCTG -3'

Posted On

2014-04-13