Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Dync2i2'

590160

Institutional Source

Beutler Lab

Gene Symbol

Dync2i2

Ensembl Gene

ENSMUSG00000039715

Gene Name

dynein 2 intermediate chain 2

Synonyms

3200002I06Rik, Wdr34

MMRRC Submission

045698-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29921563-29938891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29921780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 527 (D527A)

Ref Sequence

ENSEMBL: ENSMUSP00000109340 (fasta)

Gene Model

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

AlphaFold

Q5U4F6

Predicted Effect

probably benign
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 benign
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 benign
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: D527A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: D527A

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 benign
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 benign
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

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,181,905 (GRCm39)	N20I	probably damaging	Het
4930558K02Rik	A	G	1: 161,784,718 (GRCm39)	S74P	probably benign	Het
Abcb6	A	T	1: 75,151,489 (GRCm39)		probably null	Het
Adamts14	C	A	10: 61,081,836 (GRCm39)	A234S	probably benign	Het
Ankrd42	A	G	7: 92,268,843 (GRCm39)	S167P	probably benign	Het
Ap3m1	T	C	14: 21,088,243 (GRCm39)	I272V	probably benign	Het
Armt1	T	C	10: 4,403,572 (GRCm39)	F219S	probably damaging	Het
Atr	T	G	9: 95,789,346 (GRCm39)		probably null	Het
Cep72	G	A	13: 74,206,607 (GRCm39)	Q72*	probably null	Het
Clock	G	T	5: 76,396,225 (GRCm39)	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,898,974 (GRCm39)	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Cuta	C	T	17: 27,157,396 (GRCm39)	V135I	probably benign	Het
Ddx41	A	T	13: 55,682,052 (GRCm39)	M241K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,995 (GRCm39)	N60S	probably damaging	Het
Drc3	A	G	11: 60,279,730 (GRCm39)	M432V	probably benign	Het
Eef1d	C	A	15: 75,774,556 (GRCm39)	G368C	probably damaging	Het
En2	A	T	5: 28,375,164 (GRCm39)	K236*	probably null	Het
Fas	A	G	19: 34,284,564 (GRCm39)	T24A	possibly damaging	Het
Golga2	T	C	2: 32,196,251 (GRCm39)	V930A	probably benign	Het
Gprin2	G	T	14: 33,917,710 (GRCm39)	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,140,064 (GRCm39)	C115*	probably null	Het
Impdh2	T	C	9: 108,442,380 (GRCm39)	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,271,463 (GRCm39)	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,768,131 (GRCm39)	Y122*	probably null	Het
Lamc2	A	T	1: 153,012,550 (GRCm39)	I708N	possibly damaging	Het
Large2	T	C	2: 92,205,050 (GRCm39)	M1V	probably null	Het
Lrit2	T	C	14: 36,794,081 (GRCm39)	W382R	probably damaging	Het
Mcee	T	A	7: 64,061,716 (GRCm39)	V173E	probably damaging	Het
Mcph1	T	A	8: 18,682,342 (GRCm39)	V493E	probably benign	Het
Mfap4	A	G	11: 61,377,913 (GRCm39)	N118D	probably damaging	Het
Mknk2	T	C	10: 80,504,400 (GRCm39)	S301G	probably benign	Het
Mlf1	G	A	3: 67,300,266 (GRCm39)	M94I	possibly damaging	Het
Mrc2	T	A	11: 105,223,121 (GRCm39)	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 47,818,007 (GRCm39)	I243L	probably benign	Het
Muc4	C	A	16: 32,580,479 (GRCm39)	P360T		Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nscme3l	T	A	19: 5,553,035 (GRCm39)	S249C	probably damaging	Het
Nts	T	C	10: 102,326,165 (GRCm39)	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,959,479 (GRCm39)	L288P	probably damaging	Het
Or4a66	T	A	2: 88,531,230 (GRCm39)	I148L	probably benign	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or5w11	A	G	2: 87,459,436 (GRCm39)	I94V	probably benign	Het
Or8k30	A	G	2: 86,339,287 (GRCm39)	I161M	possibly damaging	Het
Otoa	A	G	7: 120,744,849 (GRCm39)	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,277,578 (GRCm39)	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,918,204 (GRCm39)	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,117,956 (GRCm39)	A8T	probably benign	Het
Pramel24	T	C	4: 143,453,276 (GRCm39)	V128A	probably benign	Het
Rc3h2	A	G	2: 37,267,861 (GRCm39)		probably null	Het
Rlf	T	A	4: 121,003,998 (GRCm39)	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,594,891 (GRCm39)	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527 (GRCm39)	D22V	probably benign	Het
Sema3f	A	T	9: 107,560,774 (GRCm39)	S644R	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31h1	T	A	10: 82,130,490 (GRCm39)	N840I	probably damaging	Het
Specc1l	T	A	10: 75,093,703 (GRCm39)	N717K	probably damaging	Het
Sphkap	C	T	1: 83,256,649 (GRCm39)	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,268,544 (GRCm39)	V272M	probably damaging	Het
Tlcd4	A	G	3: 121,028,690 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,070 (GRCm39)	D747G	probably damaging	Het
Trim2	C	A	3: 84,098,213 (GRCm39)	V372F	probably benign	Het
Ttc34	A	G	4: 154,945,841 (GRCm39)	T292A	probably benign	Het
Ube3b	A	G	5: 114,553,384 (GRCm39)	T919A	probably benign	Het
Zfhx4	T	C	3: 5,477,540 (GRCm39)	I3385T	probably benign	Het
Zfp423	T	C	8: 88,507,905 (GRCm39)	K813R	probably damaging	Het
Zfp850	T	C	7: 27,688,634 (GRCm39)	T525A	probably benign	Het
Zfp873	T	C	10: 81,896,109 (GRCm39)	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,725,121 (GRCm39)	T697A	possibly 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
R4907:Dync2i2	UTSW	2	29,922,472 (GRCm39)	splice site	probably null
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
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'- ACAGCCATCCTGAAGCATG -3'
(R):5'- TTTGACCTCCAGAAAAGCTCAC -3'

Sequencing Primer
(F):5'- GTACACTGTAGCTGTCTTCAAACAC -3'
(R):5'- GACCTCCAGAAAAGCTCACAGAAAC -3'

Posted On

2019-10-24