Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Dynlt4'

328689

Institutional Source

Beutler Lab

Gene Symbol

Dynlt4

Ensembl Gene

ENSMUSG00000047671

Gene Name

dynein light chain Tctex-type 4

Synonyms

Tctex1d4, 4833401D15Rik

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116983991-116985935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116985320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 48 (R48C)

Ref Sequence

ENSEMBL: ENSMUSP00000122605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000076859] [ENSMUST00000134074] [ENSMUST00000143213] [ENSMUST00000144269] [ENSMUST00000183310] [ENSMUST00000153257]

AlphaFold

Q8CDY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062206
AA Change: R48C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052243
Gene: ENSMUSG00000047671
AA Change: R48C

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:Tctex-1	121	217	3.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076859

SMART Domains

Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680

Domain	Start	End	E-Value	Type
low complexity region	9	36	N/A	INTRINSIC
S_TKc	63	315	2.15e-96	SMART
Pfam:POLO_box	473	534	2.7e-16	PFAM
low complexity region	554	566	N/A	INTRINSIC
Pfam:POLO_box	570	638	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126135

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134074
AA Change: R48C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114182
Gene: ENSMUSG00000047671
AA Change: R48C

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143213

Predicted Effect

probably damaging
Transcript: ENSMUST00000144269
AA Change: R48C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122605
Gene: ENSMUSG00000047671
AA Change: R48C

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:Tctex-1	118	178	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147730

SMART Domains

Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680

Domain	Start	End	E-Value	Type
low complexity region	1	9	N/A	INTRINSIC
S_TKc	42	294	2.15e-96	SMART
Pfam:POLO_box	435	496	5.3e-17	PFAM
low complexity region	516	528	N/A	INTRINSIC
Pfam:POLO_box	532	600	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183310

SMART Domains

Protein: ENSMUSP00000138230
Gene: ENSMUSG00000073771

Domain	Start	End	E-Value	Type
BTB	29	124	1.82e-18	SMART
BACK	129	233	4.17e-8	SMART
low complexity region	260	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153257

SMART Domains

Protein: ENSMUSP00000121768
Gene: ENSMUSG00000073771

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:BACK	33	84	5e-16	BLAST

Meta Mutation Damage Score

0.0939

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Dynlt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Dynlt4	APN	4	116,985,794 (GRCm39)	missense	probably damaging	1.00
Doughty	UTSW	4	116,985,320 (GRCm39)	missense	probably damaging	1.00
R1573:Dynlt4	UTSW	4	116,985,191 (GRCm39)	missense	probably benign	0.01
R2021:Dynlt4	UTSW	4	116,985,504 (GRCm39)	missense	possibly damaging	0.82
R2022:Dynlt4	UTSW	4	116,985,504 (GRCm39)	missense	possibly damaging	0.82
R2023:Dynlt4	UTSW	4	116,985,504 (GRCm39)	missense	possibly damaging	0.82
R4577:Dynlt4	UTSW	4	116,985,812 (GRCm39)	missense	possibly damaging	0.52
R5226:Dynlt4	UTSW	4	116,985,290 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GTCTACTTCACAGAGCAAGAGGC -3'
(R):5'- TATGAGGGTGCCATCCTACG -3'

Sequencing Primer
(F):5'- CTATGAGGGCCACTCCTAAGTATG -3'
(R):5'- TCCTACGGGGAAGCATCAG -3'

Posted On

2015-07-21