Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Dync1i1'

584005

Institutional Source

Beutler Lab

Gene Symbol

Dync1i1

Ensembl Gene

ENSMUSG00000029757

Gene Name

dynein cytoplasmic 1 intermediate chain 1

Synonyms

DIC, IC74, Dncic1

MMRRC Submission

045615-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5725772-6028030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5784464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 103 (S103P)

Ref Sequence

ENSEMBL: ENSMUSP00000111218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115554] [ENSMUST00000115555] [ENSMUST00000115556] [ENSMUST00000115559]

AlphaFold

O88485

Predicted Effect

probably benign
Transcript: ENSMUST00000115554

SMART Domains

Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:Dynein_IC2	105	137	3.1e-20	PFAM
low complexity region	143	150	N/A	INTRINSIC
Blast:WD40	235	288	2e-26	BLAST
WD40	293	332	9.6e-2	SMART
WD40	339	382	8.91e-1	SMART
WD40	436	481	4.48e-2	SMART
WD40	484	524	6.19e-1	SMART
WD40	529	569	7.67e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115555
AA Change: S131P

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

SMART Domains

Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: S131P

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
low complexity region	92	107	N/A	INTRINSIC
Pfam:Dynein_IC2	143	173	6.9e-18	PFAM
low complexity region	180	187	N/A	INTRINSIC
Blast:WD40	272	325	4e-26	BLAST
WD40	330	369	9.6e-2	SMART
WD40	376	419	8.91e-1	SMART
WD40	473	518	4.48e-2	SMART
WD40	521	561	6.19e-1	SMART
WD40	566	606	7.67e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115556
AA Change: S103P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: S103P

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
Pfam:Dynein_IC2	114	146	9.2e-21	PFAM
low complexity region	152	159	N/A	INTRINSIC
Blast:WD40	245	297	3e-26	BLAST
WD40	302	341	9.6e-2	SMART
WD40	348	391	8.91e-1	SMART
WD40	445	490	4.48e-2	SMART
WD40	493	533	6.19e-1	SMART
WD40	538	578	7.67e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115559
AA Change: S114P

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

SMART Domains

Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: S114P

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:Dynein_IC2	125	157	2e-20	PFAM
low complexity region	163	170	N/A	INTRINSIC
Blast:WD40	256	308	3e-26	BLAST
WD40	313	352	9.6e-2	SMART
WD40	359	402	8.91e-1	SMART
WD40	456	501	4.48e-2	SMART
WD40	504	544	6.19e-1	SMART
WD40	549	589	7.67e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204149
AA Change: S92P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acsl5	G	A	19: 55,266,615 (GRCm39)	V59I		Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,486,199 (GRCm39)	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Krt18	A	G	15: 101,939,896 (GRCm39)	K365E	probably damaging	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Pramel1	T	C	4: 143,124,993 (GRCm39)	S306P	probably damaging	Het
Prpsap2	A	T	11: 61,635,797 (GRCm39)	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,495,503 (GRCm39)	A107V	probably benign	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	probably damaging	Het

Other mutations in Dync1i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Dync1i1	APN	6	5,972,135 (GRCm39)	missense	probably damaging	1.00
IGL01816:Dync1i1	APN	6	5,767,146 (GRCm39)	critical splice donor site	probably null
IGL02171:Dync1i1	APN	6	5,969,498 (GRCm39)	missense	probably damaging	0.98
IGL02646:Dync1i1	APN	6	5,767,034 (GRCm39)	missense	probably benign	0.12
IGL02672:Dync1i1	APN	6	5,767,034 (GRCm39)	missense	probably benign	0.12
IGL02691:Dync1i1	APN	6	5,800,767 (GRCm39)	splice site	probably benign
IGL02880:Dync1i1	APN	6	5,966,821 (GRCm39)	splice site	probably null
IGL02796:Dync1i1	UTSW	6	5,757,385 (GRCm39)	missense	probably benign	0.00
R0519:Dync1i1	UTSW	6	6,027,399 (GRCm39)	missense	probably benign
R1404:Dync1i1	UTSW	6	5,915,876 (GRCm39)	missense	probably damaging	1.00
R1404:Dync1i1	UTSW	6	5,915,876 (GRCm39)	missense	probably damaging	1.00
R1499:Dync1i1	UTSW	6	5,769,799 (GRCm39)	splice site	probably benign
R2119:Dync1i1	UTSW	6	5,767,096 (GRCm39)	missense	probably damaging	0.97
R3177:Dync1i1	UTSW	6	5,972,211 (GRCm39)	critical splice donor site	probably null
R3277:Dync1i1	UTSW	6	5,972,211 (GRCm39)	critical splice donor site	probably null
R4028:Dync1i1	UTSW	6	5,961,842 (GRCm39)	missense	probably damaging	1.00
R4058:Dync1i1	UTSW	6	5,769,764 (GRCm39)	missense	probably damaging	0.99
R4551:Dync1i1	UTSW	6	5,923,206 (GRCm39)	missense	probably benign	0.01
R4748:Dync1i1	UTSW	6	5,767,048 (GRCm39)	missense	possibly damaging	0.66
R5263:Dync1i1	UTSW	6	5,969,446 (GRCm39)	missense	possibly damaging	0.88
R6193:Dync1i1	UTSW	6	5,730,679 (GRCm39)	missense	probably benign	0.03
R6280:Dync1i1	UTSW	6	5,972,084 (GRCm39)	missense	probably benign	0.00
R6933:Dync1i1	UTSW	6	5,913,333 (GRCm39)	missense	probably damaging	1.00
R7083:Dync1i1	UTSW	6	5,969,429 (GRCm39)	missense	probably damaging	1.00
R7347:Dync1i1	UTSW	6	5,784,530 (GRCm39)	makesense	probably null
R7512:Dync1i1	UTSW	6	5,969,410 (GRCm39)	missense	possibly damaging	0.88
R7601:Dync1i1	UTSW	6	5,905,129 (GRCm39)	missense	probably benign	0.19
R8349:Dync1i1	UTSW	6	5,966,815 (GRCm39)	missense	possibly damaging	0.88
R8449:Dync1i1	UTSW	6	5,966,815 (GRCm39)	missense	possibly damaging	0.88
R8518:Dync1i1	UTSW	6	5,913,330 (GRCm39)	missense	probably damaging	0.97
R8766:Dync1i1	UTSW	6	5,767,142 (GRCm39)	missense	possibly damaging	0.57
R9242:Dync1i1	UTSW	6	5,769,706 (GRCm39)	missense	probably benign
R9253:Dync1i1	UTSW	6	5,769,698 (GRCm39)	missense	probably benign	0.00
R9375:Dync1i1	UTSW	6	5,913,443 (GRCm39)	missense	possibly damaging	0.94
X0010:Dync1i1	UTSW	6	5,972,141 (GRCm39)	missense	probably benign	0.06
Z1177:Dync1i1	UTSW	6	5,767,057 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGTCTTCCATGGAAATGGC -3'
(R):5'- AAGAGAGACTTTAGCCCAAGC -3'

Sequencing Primer
(F):5'- CTGTCTTCCATGGAAATGGCCATAG -3'
(R):5'- CCCAAGCTGTAGAAGGAAAACTAATG -3'

Posted On

2019-10-17