Mutagenetix > Incidental Mutation

Incidental Mutation 'R9375:Dync1i1'

709540

Institutional Source

Beutler Lab

Gene Symbol

Dync1i1

Ensembl Gene

ENSMUSG00000029757

Gene Name

dynein cytoplasmic 1 intermediate chain 1

Synonyms

DIC, IC74, Dncic1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R9375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5725772-6028030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5913443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 225 (F225L)

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
AA Change: F216L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: F216L

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 benign
Transcript: ENSMUST00000115555
AA Change: F253L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: F253L

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: F225L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: F225L

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 benign
Transcript: ENSMUST00000115559
AA Change: F236L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: F236L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,332,567 (GRCm39)	D549G	probably benign	Het
Aamdc	A	G	7: 97,199,902 (GRCm39)	V120A	probably benign	Het
Acp2	A	T	2: 91,037,174 (GRCm39)	Q251L	probably benign	Het
AI597479	C	T	1: 43,150,505 (GRCm39)	A205V	possibly damaging	Het
Apob	A	G	12: 8,029,261 (GRCm39)	T44A	possibly damaging	Het
Arhgap18	G	A	10: 26,648,610 (GRCm39)	V11M	probably damaging	Het
Arhgef10l	T	G	4: 140,319,265 (GRCm39)	H156P	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Ccn2	A	T	10: 24,473,501 (GRCm39)	M347L	possibly damaging	Het
Chd9	G	A	8: 91,725,335 (GRCm39)		probably null	Het
Clec4n	T	A	6: 123,207,662 (GRCm39)	F42L	probably benign	Het
Cngb1	T	C	8: 96,026,350 (GRCm39)	K144E	unknown	Het
Cyp4f17	A	G	17: 32,747,746 (GRCm39)	T485A	probably damaging	Het
Dcaf6	T	A	1: 165,185,052 (GRCm39)	Y480F	probably damaging	Het
Defa30	C	T	8: 21,624,686 (GRCm39)	T3I	probably damaging	Het
Dmxl1	T	A	18: 50,091,477 (GRCm39)	W2854R	probably damaging	Het
Dnah11	G	A	12: 117,884,703 (GRCm39)	T3783I	possibly damaging	Het
Elp6	T	A	9: 110,144,852 (GRCm39)	Y119*	probably null	Het
Enpep	A	T	3: 129,125,529 (GRCm39)	M201K	probably benign	Het
Fam161a	A	T	11: 22,970,661 (GRCm39)	R280W	probably damaging	Het
Fam98a	T	C	17: 75,848,330 (GRCm39)	N128S	possibly damaging	Het
Fpgt	A	T	3: 154,792,934 (GRCm39)	D364E	probably benign	Het
G3bp1	T	A	11: 55,390,439 (GRCm39)	M448K	probably damaging	Het
Gadd45b	T	C	10: 80,766,284 (GRCm39)	M16T	probably benign	Het
Gdi2	A	T	13: 3,614,869 (GRCm39)	I383F	probably benign	Het
H2-T13	T	C	17: 36,391,993 (GRCm39)	T27A	possibly damaging	Het
Igtp	T	G	11: 58,097,026 (GRCm39)	L66V	probably damaging	Het
Kcne4	G	A	1: 78,795,623 (GRCm39)	M90I	probably benign	Het
Lmo7	T	A	14: 102,136,123 (GRCm39)	M732K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mast4	T	G	13: 102,917,753 (GRCm39)	S552R	probably damaging	Het
Meak7	G	A	8: 120,498,096 (GRCm39)	A136V	probably benign	Het
Mff	A	T	1: 82,707,007 (GRCm39)	M11L	probably benign	Het
Mterf2	T	C	10: 84,956,327 (GRCm39)	E99G	probably damaging	Het
Myef2l	T	C	3: 10,153,791 (GRCm39)	S187P	probably benign	Het
Myom2	T	A	8: 15,149,210 (GRCm39)	N560K	probably damaging	Het
Nab2	A	G	10: 127,500,580 (GRCm39)	S171P	probably damaging	Het
Nhlrc3	T	C	3: 53,369,190 (GRCm39)	N83S	possibly damaging	Het
Nod2	A	T	8: 89,391,033 (GRCm39)	I447F	probably damaging	Het
Npat	T	A	9: 53,474,456 (GRCm39)	D749E	possibly damaging	Het
Nxph4	A	G	10: 127,362,631 (GRCm39)	S87P	probably benign	Het
Or2y1f	T	A	11: 49,184,902 (GRCm39)	Y251*	probably null	Het
Or51i2	G	T	7: 103,689,273 (GRCm39)	R90L	possibly damaging	Het
Or5d47	G	A	2: 87,804,526 (GRCm39)	T161M	possibly damaging	Het
Or6c6	T	A	10: 129,186,989 (GRCm39)	S186T	probably damaging	Het
Or9q2	T	A	19: 13,772,214 (GRCm39)	T254S	probably damaging	Het
Pcdha3	G	A	18: 37,079,353 (GRCm39)	V32I	probably benign	Het
Pcdhgc3	A	T	18: 37,939,691 (GRCm39)	T31S	probably benign	Het
Phldb3	A	G	7: 24,323,297 (GRCm39)	R391G	probably damaging	Het
Piezo1	A	G	8: 123,228,604 (GRCm39)	V257A		Het
Pip5k1b	T	A	19: 24,416,442 (GRCm39)	Q15L	probably benign	Het
Plxnc1	T	C	10: 94,649,093 (GRCm39)	N1229D	probably benign	Het
Ptpn12	A	G	5: 21,224,212 (GRCm39)	V127A	probably benign	Het
Ptprr	T	A	10: 116,109,724 (GRCm39)	V655D	probably benign	Het
Rbbp8	A	G	18: 11,838,888 (GRCm39)	T190A	probably benign	Het
Rnf17	T	A	14: 56,719,579 (GRCm39)	V943E	probably damaging	Het
Rnpc3	C	T	3: 113,404,913 (GRCm39)	G414D	probably damaging	Het
Robo4	T	A	9: 37,316,158 (GRCm39)	N387K	probably damaging	Het
Sall4	G	A	2: 168,597,781 (GRCm39)	T353M	probably damaging	Het
Serpinb13	T	C	1: 106,909,997 (GRCm39)	I38T	probably damaging	Het
Sgsm1	A	T	5: 113,422,139 (GRCm39)	I218N	unknown	Het
Sntg2	T	A	12: 30,293,343 (GRCm39)		probably null	Het
Taf1c	G	A	8: 120,325,393 (GRCm39)	S823F	probably damaging	Het
Timd6	T	A	11: 46,468,246 (GRCm39)	C107S	probably damaging	Het
Trhde	T	G	10: 114,244,598 (GRCm39)	I963L	probably damaging	Het
Trim43b	T	C	9: 88,967,619 (GRCm39)	Y339C	probably damaging	Het
Trp53	T	A	11: 69,480,537 (GRCm39)		probably null	Het
Tubg2	T	C	11: 101,051,621 (GRCm39)	V282A	probably benign	Het
Ube2g1	C	T	11: 72,553,943 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,203 (GRCm39)	A3341E		Het
Vmn2r12	T	A	5: 109,233,986 (GRCm39)	H742L	probably damaging	Het
Vmn2r24	T	C	6: 123,792,542 (GRCm39)	V623A	probably damaging	Het
Vmn2r5	A	T	3: 64,411,316 (GRCm39)	D417E	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,673,499 (GRCm39)	P193S	possibly damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zfp2	T	C	11: 50,791,042 (GRCm39)	S334G	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
R7543:Dync1i1	UTSW	6	5,784,464 (GRCm39)	missense	possibly damaging	0.93
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
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'- CCCCGGTTAAAATACAGGCTC -3'
(R):5'- CTGAGCCTAGATCATTGCTTGAG -3'

Sequencing Primer
(F):5'- GGTTAAAATACAGGCTCTTTCAAGGG -3'
(R):5'- TGCTTGAGTCTAGTACAGGAAC -3'

Posted On

2022-04-18