Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Dync2i2'

379085

Institutional Source

Beutler Lab

Gene Symbol

Dync2i2

Ensembl Gene

ENSMUSG00000039715

Gene Name

dynein 2 intermediate chain 2

Synonyms

3200002I06Rik, Wdr34

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R4907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29921563-29938891 bp(-) (GRCm39)

Type of Mutation

splice site (1276 bp from exon)

DNA Base Change (assembly)

A to G at 29922472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046257] [ENSMUST00000095083] [ENSMUST00000100225] [ENSMUST00000113711] [ENSMUST00000113717] [ENSMUST00000113719] [ENSMUST00000129241]

AlphaFold

Q5U4F6

Predicted Effect

probably null
Transcript: ENSMUST00000046257

SMART Domains

Protein: ENSMUSP00000047792
Gene: ENSMUSG00000057738

Domain	Start	End	E-Value	Type
SPEC	47	146	2.1e-30	SMART
SPEC	152	252	2.6e-35	SMART
SPEC	258	358	4.93e-36	SMART
SPEC	364	464	1.08e-27	SMART
SPEC	470	570	9.01e-30	SMART
SPEC	576	675	3.52e-32	SMART
SPEC	681	781	2.15e-36	SMART
SPEC	787	887	2.45e-40	SMART
SPEC	893	1068	1.18e-24	SMART
SH3	970	1025	8.24e-18	SMART
SPEC	1074	1210	6.52e-27	SMART
SPEC	1216	1316	1.44e-37	SMART
SPEC	1322	1422	4.43e-29	SMART
SPEC	1428	1528	7.54e-32	SMART
SPEC	1534	1635	9.65e-30	SMART
SPEC	1641	1741	2.32e-32	SMART
SPEC	1747	1847	6.98e-36	SMART
SPEC	1853	1953	1.53e-32	SMART
SPEC	1959	2060	6.23e-24	SMART
SPEC	2074	2174	2.08e-11	SMART
SPEC	2188	2289	1.07e-4	SMART
EFh	2307	2335	5.78e-7	SMART
EFh	2350	2378	3.85e-3	SMART
efhand_Ca_insen	2382	2451	6.74e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000095083

SMART Domains

Protein: ENSMUSP00000092697
Gene: ENSMUSG00000057738

Domain	Start	End	E-Value	Type
SPEC	47	146	2.1e-30	SMART
SPEC	152	252	2.6e-35	SMART
SPEC	258	358	4.93e-36	SMART
SPEC	364	464	1.08e-27	SMART
SPEC	470	570	9.01e-30	SMART
SPEC	576	675	3.52e-32	SMART
SPEC	681	781	2.15e-36	SMART
SPEC	787	887	2.45e-40	SMART
SPEC	893	1088	1.56e-24	SMART
SH3	970	1025	8.24e-18	SMART
SPEC	1094	1230	6.52e-27	SMART
SPEC	1236	1336	1.44e-37	SMART
SPEC	1342	1442	4.43e-29	SMART
SPEC	1448	1548	7.54e-32	SMART
SPEC	1554	1655	9.65e-30	SMART
SPEC	1661	1761	2.32e-32	SMART
SPEC	1767	1867	6.98e-36	SMART
SPEC	1873	1973	1.53e-32	SMART
SPEC	1979	2080	6.23e-24	SMART
SPEC	2094	2194	2.08e-11	SMART
SPEC	2208	2309	1.07e-4	SMART
EFh	2327	2355	5.78e-7	SMART
EFh	2370	2398	3.85e-3	SMART
efhand_Ca_insen	2402	2471	6.74e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000100225

SMART Domains

Protein: ENSMUSP00000097797
Gene: ENSMUSG00000057738

Domain	Start	End	E-Value	Type
SPEC	47	146	2.1e-30	SMART
SPEC	152	252	2.6e-35	SMART
SPEC	258	358	4.93e-36	SMART
SPEC	364	464	1.08e-27	SMART
SPEC	470	570	9.01e-30	SMART
SPEC	576	675	3.52e-32	SMART
SPEC	681	781	2.15e-36	SMART
SPEC	787	887	2.45e-40	SMART
SPEC	893	1088	1.56e-24	SMART
SH3	970	1025	8.24e-18	SMART
SPEC	1094	1230	6.52e-27	SMART
SPEC	1236	1336	1.44e-37	SMART
SPEC	1342	1442	4.43e-29	SMART
SPEC	1448	1548	7.54e-32	SMART
SPEC	1554	1660	2.06e-24	SMART
SPEC	1666	1766	2.32e-32	SMART
SPEC	1772	1872	6.98e-36	SMART
SPEC	1878	1978	1.53e-32	SMART
SPEC	1984	2085	6.23e-24	SMART
SPEC	2099	2199	2.08e-11	SMART
SPEC	2213	2314	1.07e-4	SMART
EFh	2332	2360	5.78e-7	SMART
EFh	2375	2403	3.85e-3	SMART
efhand_Ca_insen	2407	2476	6.74e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113711
AA Change: F387L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: F387L

Domain	Start	End	E-Value	Type
low complexity region	11	36	N/A	INTRINSIC
low complexity region	90	100	N/A	INTRINSIC
Blast:WD40	146	200	3e-28	BLAST
WD40	207	247	2e-1	SMART
WD40	256	300	3.42e1	SMART
Blast:WD40	323	364	8e-10	BLAST
WD40	382	422	1.66e-5	SMART
WD40	425	465	3.09e-1	SMART
WD40	470	512	4.18e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113717

SMART Domains

Protein: ENSMUSP00000109346
Gene: ENSMUSG00000057738

Domain	Start	End	E-Value	Type
SPEC	47	146	2.1e-30	SMART
SPEC	152	252	2.6e-35	SMART
SPEC	258	358	4.93e-36	SMART
SPEC	364	464	1.08e-27	SMART
SPEC	470	570	9.01e-30	SMART
SPEC	576	675	3.52e-32	SMART
SPEC	681	781	2.15e-36	SMART
SPEC	787	887	2.45e-40	SMART
SPEC	893	1068	1.18e-24	SMART
SH3	970	1025	8.24e-18	SMART
SPEC	1074	1210	6.52e-27	SMART
SPEC	1216	1316	1.44e-37	SMART
SPEC	1322	1422	4.43e-29	SMART
SPEC	1428	1528	7.54e-32	SMART
SPEC	1534	1640	2.06e-24	SMART
SPEC	1646	1746	2.32e-32	SMART
SPEC	1752	1852	6.98e-36	SMART
SPEC	1858	1958	1.53e-32	SMART
SPEC	1964	2065	6.23e-24	SMART
SPEC	2079	2179	2.08e-11	SMART
SPEC	2193	2294	1.07e-4	SMART
EFh	2312	2340	5.78e-7	SMART
EFh	2355	2383	3.85e-3	SMART
efhand_Ca_insen	2387	2456	6.74e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113719

SMART Domains

Protein: ENSMUSP00000109348
Gene: ENSMUSG00000057738

Domain	Start	End	E-Value	Type
SPEC	47	146	2.1e-30	SMART
SPEC	152	252	2.6e-35	SMART
SPEC	258	358	4.93e-36	SMART
SPEC	364	464	1.08e-27	SMART
SPEC	470	570	9.01e-30	SMART
SPEC	576	675	3.52e-32	SMART
SPEC	681	781	2.15e-36	SMART
SPEC	787	887	2.45e-40	SMART
SPEC	893	1068	1.18e-24	SMART
SH3	970	1025	8.24e-18	SMART
SPEC	1074	1210	6.52e-27	SMART
SPEC	1216	1316	1.44e-37	SMART
SPEC	1322	1422	4.43e-29	SMART
SPEC	1428	1528	7.54e-32	SMART
SPEC	1534	1640	2.06e-24	SMART
SPEC	1646	1746	2.32e-32	SMART
SPEC	1752	1852	6.98e-36	SMART
SPEC	1858	1958	1.53e-32	SMART
SPEC	1964	2065	6.23e-24	SMART
SPEC	2079	2179	2.08e-11	SMART
SPEC	2193	2315	3.27e0	SMART
EFh	2333	2361	5.78e-7	SMART
EFh	2376	2404	3.85e-3	SMART
efhand_Ca_insen	2408	2477	6.74e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143892

Predicted Effect

probably null
Transcript: ENSMUST00000129241

SMART Domains

Protein: ENSMUSP00000121116
Gene: ENSMUSG00000057738

Domain	Start	End	E-Value	Type
Pfam:Spectrin	1	65	9.9e-10	PFAM
SPEC	78	178	2.08e-11	SMART
SPEC	192	314	3.27e0	SMART
EFh	332	360	5.78e-7	SMART
EFh	375	403	3.85e-3	SMART
efhand_Ca_insen	407	476	6.74e-32	SMART

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,422,350 (GRCm39)	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 59,887,957 (GRCm39)	E161G	probably benign	Het
Abcc5	A	G	16: 20,195,296 (GRCm39)	S734P	possibly damaging	Het
Actn1	T	G	12: 80,228,188 (GRCm39)	H394P	probably damaging	Het
Adam8	A	T	7: 139,569,286 (GRCm39)	D144E	probably benign	Het
Ankrd50	A	T	3: 38,510,824 (GRCm39)	N514K	probably damaging	Het
Ankrd50	T	A	3: 38,509,122 (GRCm39)	K1082*	probably null	Het
Atp4a	A	G	7: 30,418,517 (GRCm39)	I602V	possibly damaging	Het
Baz2a	A	G	10: 127,946,677 (GRCm39)	T64A	probably damaging	Het
Btbd19	A	G	4: 116,977,764 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,028,998 (GRCm39)	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,284,007 (GRCm39)	D103E	probably benign	Het
Cd209d	T	C	8: 3,927,948 (GRCm39)	N52S	probably benign	Het
Cdh20	T	A	1: 110,066,053 (GRCm39)	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,299,140 (GRCm39)	V101A	probably damaging	Het
Cldn22	T	C	8: 48,277,742 (GRCm39)	V60A	probably benign	Het
Clec10a	G	A	11: 70,060,797 (GRCm39)	G183D	probably benign	Het
Cnga3	T	C	1: 37,281,023 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,714,634 (GRCm39)	F224I	probably benign	Het
Fbxo40	A	G	16: 36,790,064 (GRCm39)	Y349H	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gm10029	A	T	13: 6,712,592 (GRCm39)		noncoding transcript	Het
Gm14399	T	A	2: 174,973,182 (GRCm39)		probably benign	Het
Gm9932	T	C	5: 100,347,014 (GRCm39)		noncoding transcript	Het
Immp1l	A	G	2: 105,767,462 (GRCm39)	Y107C	probably damaging	Het
Ism1	G	T	2: 139,520,672 (GRCm39)	G28V	probably benign	Het
Klf1	C	A	8: 85,629,814 (GRCm39)	S213*	probably null	Het
Krt12	T	C	11: 99,309,188 (GRCm39)	E329G	probably damaging	Het
Lama2	A	T	10: 27,040,942 (GRCm39)	N1460K	probably benign	Het
Llgl2	T	A	11: 115,744,800 (GRCm39)	Y932*	probably null	Het
Lrrc7	T	C	3: 157,866,877 (GRCm39)	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,312,899 (GRCm39)	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,329,275 (GRCm39)	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,811,677 (GRCm39)		noncoding transcript	Het
Mical3	T	A	6: 120,984,259 (GRCm39)	M206L	probably benign	Het
Mndal	T	G	1: 173,690,256 (GRCm39)	N358T	probably damaging	Het
Nckap5	A	G	1: 125,953,889 (GRCm39)	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,573,554 (GRCm39)		probably benign	Het
Nfatc3	C	A	8: 106,806,359 (GRCm39)	H401Q	probably damaging	Het
Npas2	T	C	1: 39,401,066 (GRCm39)	V810A	unknown	Het
Nt5c2	A	G	19: 46,884,978 (GRCm39)	V245A	possibly damaging	Het
Or1j4	A	T	2: 36,740,270 (GRCm39)	I71F	probably benign	Het
Or4d5	A	T	9: 40,011,955 (GRCm39)	M277K	probably benign	Het
Or51ah3	A	G	7: 103,210,241 (GRCm39)	M186V	possibly damaging	Het
Or52h9	A	G	7: 104,202,518 (GRCm39)	R131G	probably damaging	Het
Or5b109	A	G	19: 13,212,157 (GRCm39)	D181G	probably damaging	Het
Otof	A	T	5: 30,536,005 (GRCm39)		probably null	Het
Pck1	C	T	2: 172,998,816 (GRCm39)	T358I	probably damaging	Het
Pclo	T	C	5: 14,730,065 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pgr	G	A	9: 8,947,044 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,367,475 (GRCm39)	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,142,581 (GRCm39)	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,279,450 (GRCm39)	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,390,703 (GRCm39)		probably null	Het
Rgs22	T	A	15: 36,087,570 (GRCm39)	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,732,051 (GRCm39)	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,503,505 (GRCm39)	L393P	probably damaging	Het
Snw1	T	C	12: 87,506,259 (GRCm39)	I214V	probably benign	Het
Sorbs1	G	A	19: 40,328,491 (GRCm39)	Q595*	probably null	Het
Spata21	T	A	4: 140,824,432 (GRCm39)		probably null	Het
Ss18l1	G	T	2: 179,705,192 (GRCm39)		probably null	Het
Tmem163	A	T	1: 127,447,107 (GRCm39)	L176H	probably damaging	Het
Tpd52	T	C	3: 9,009,668 (GRCm39)		probably null	Het
Tpsab1	T	A	17: 25,562,436 (GRCm39)	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,728,538 (GRCm39)	T450A	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Txndc11	A	T	16: 10,906,398 (GRCm39)	H377Q	probably benign	Het
Usp17la	A	G	7: 104,510,355 (GRCm39)	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,770,348 (GRCm39)	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Wdr33	T	C	18: 32,040,046 (GRCm39)	*1331Q	probably null	Het
Wdr90	T	A	17: 26,079,624 (GRCm39)		probably benign	Het
Xpo7	T	C	14: 70,908,069 (GRCm39)	M903V	probably benign	Het
Zfhx3	T	A	8: 109,519,986 (GRCm39)	S369R	probably damaging	Het
Zfp808	T	C	13: 62,319,287 (GRCm39)	F172S	possibly damaging	Het
Zfp821	A	G	8: 110,450,625 (GRCm39)	E55G	probably benign	Het
Zfp964	T	C	8: 70,115,972 (GRCm39)	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,621,646 (GRCm39)	T250A	probably damaging	Het

Other mutations in Dync2i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Dync2i2	APN	2	29,928,402 (GRCm39)	missense	probably benign	0.11
IGL02165:Dync2i2	APN	2	29,922,172 (GRCm39)	missense	probably benign
IGL02600:Dync2i2	APN	2	29,923,314 (GRCm39)	missense	possibly damaging	0.65
PIT1430001:Dync2i2	UTSW	2	29,922,147 (GRCm39)	missense	probably damaging	1.00
R0542:Dync2i2	UTSW	2	29,921,837 (GRCm39)	missense	probably damaging	0.98
R4065:Dync2i2	UTSW	2	29,922,820 (GRCm39)	missense	probably benign	0.03
R4067:Dync2i2	UTSW	2	29,922,820 (GRCm39)	missense	probably benign	0.03
R4750:Dync2i2	UTSW	2	29,923,932 (GRCm39)	missense	probably benign	0.00
R5008:Dync2i2	UTSW	2	29,922,781 (GRCm39)	missense	probably benign	0.14
R5253:Dync2i2	UTSW	2	29,922,375 (GRCm39)	unclassified	probably benign
R6014:Dync2i2	UTSW	2	29,921,763 (GRCm39)	missense	probably benign	0.01
R6456:Dync2i2	UTSW	2	29,922,779 (GRCm39)	missense	probably benign	0.01
R6789:Dync2i2	UTSW	2	29,923,284 (GRCm39)	critical splice donor site	probably null
R7024:Dync2i2	UTSW	2	29,928,278 (GRCm39)	missense	possibly damaging	0.61
R7319:Dync2i2	UTSW	2	29,928,341 (GRCm39)	missense	probably benign	0.00
R7576:Dync2i2	UTSW	2	29,938,790 (GRCm39)	missense	probably benign	0.00
R7640:Dync2i2	UTSW	2	29,921,780 (GRCm39)	missense	probably benign	0.00
R8025:Dync2i2	UTSW	2	29,938,730 (GRCm39)	missense	probably benign	0.00
R8111:Dync2i2	UTSW	2	29,921,859 (GRCm39)	missense	possibly damaging	0.82
R8273:Dync2i2	UTSW	2	29,921,903 (GRCm39)	missense	probably damaging	1.00
R8277:Dync2i2	UTSW	2	29,923,886 (GRCm39)	missense	probably benign
R8309:Dync2i2	UTSW	2	29,922,201 (GRCm39)	missense	probably damaging	1.00
R8724:Dync2i2	UTSW	2	29,923,961 (GRCm39)	missense	probably benign	0.11
R8732:Dync2i2	UTSW	2	29,922,220 (GRCm39)	missense	possibly damaging	0.82
R8837:Dync2i2	UTSW	2	29,928,374 (GRCm39)	missense	probably benign	0.03
R9149:Dync2i2	UTSW	2	29,923,953 (GRCm39)	missense	probably benign	0.26
R9190:Dync2i2	UTSW	2	29,922,211 (GRCm39)	missense	probably benign	0.05
R9557:Dync2i2	UTSW	2	29,922,534 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TATCACCAGCACCTCTTGGG -3'
(R):5'- GCTGTCAGGACTTATCACTGATAC -3'

Sequencing Primer
(F):5'- GCTCTCTGCCCATAGAAAGTTG -3'
(R):5'- AGGACTTATCACTGATACTTTTCCAC -3'

Posted On

2016-04-15