Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Dnai2'

401792

Institutional Source

Beutler Lab

Gene Symbol

Dnai2

Ensembl Gene

ENSMUSG00000034706

Gene Name

dynein axonemal intermediate chain 2

Synonyms

C030015H18Rik, b2b3405Clo, Dnaic2

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R5267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114618234-114648715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114631293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 221 (T221S)

Ref Sequence

ENSEMBL: ENSMUSP00000114700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000141762]

AlphaFold

A2AC93

Predicted Effect

probably benign
Transcript: ENSMUST00000069325
AA Change: T221S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: T221S

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
WD40	441	480	4.93e1	SMART
low complexity region	519	545	N/A	INTRINSIC
low complexity region	559	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092469
AA Change: T221S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: T221S

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
WD40	441	480	4.93e1	SMART
low complexity region	519	545	N/A	INTRINSIC
low complexity region	559	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136403

Predicted Effect

probably benign
Transcript: ENSMUST00000141762
AA Change: T221S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: T221S

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
low complexity region	458	476	N/A	INTRINSIC
low complexity region	507	533	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151053

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Adam15	T	G	3: 89,257,206 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Kdf1	C	G	4: 133,256,258 (GRCm39)	A325G	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Krt81	T	A	15: 101,357,340 (GRCm39)	N464I	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mycl	C	T	4: 122,894,289 (GRCm39)	A363V	probably damaging	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Praf2	T	C	X: 7,596,641 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syk	A	G	13: 52,795,962 (GRCm39)	K519R	probably benign	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	probably benign	Het

Other mutations in Dnai2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Dnai2	APN	11	114,642,614 (GRCm39)	missense	probably benign	0.37
IGL01548:Dnai2	APN	11	114,643,768 (GRCm39)	missense	probably damaging	1.00
IGL02719:Dnai2	APN	11	114,642,737 (GRCm39)	missense	probably damaging	1.00
IGL03236:Dnai2	APN	11	114,648,075 (GRCm39)	unclassified	probably benign
R0096:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R0096:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R0305:Dnai2	UTSW	11	114,643,720 (GRCm39)	missense	probably benign	0.09
R0472:Dnai2	UTSW	11	114,636,015 (GRCm39)	splice site	probably benign
R0711:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R1756:Dnai2	UTSW	11	114,641,206 (GRCm39)	missense	probably benign	0.02
R1861:Dnai2	UTSW	11	114,643,777 (GRCm39)	missense	possibly damaging	0.56
R1916:Dnai2	UTSW	11	114,623,749 (GRCm39)	missense	possibly damaging	0.88
R1981:Dnai2	UTSW	11	114,623,755 (GRCm39)	missense	probably damaging	1.00
R1983:Dnai2	UTSW	11	114,626,682 (GRCm39)	splice site	probably null
R2430:Dnai2	UTSW	11	114,648,012 (GRCm39)	unclassified	probably benign
R2510:Dnai2	UTSW	11	114,647,993 (GRCm39)	unclassified	probably benign
R3001:Dnai2	UTSW	11	114,641,297 (GRCm39)	missense	probably damaging	1.00
R3002:Dnai2	UTSW	11	114,641,297 (GRCm39)	missense	probably damaging	1.00
R3113:Dnai2	UTSW	11	114,642,756 (GRCm39)	splice site	probably null
R3803:Dnai2	UTSW	11	114,629,551 (GRCm39)	missense	probably benign
R3874:Dnai2	UTSW	11	114,623,781 (GRCm39)	missense	probably damaging	1.00
R4853:Dnai2	UTSW	11	114,635,917 (GRCm39)	missense	probably benign	0.03
R6008:Dnai2	UTSW	11	114,643,816 (GRCm39)	missense	probably benign	0.01
R6024:Dnai2	UTSW	11	114,643,734 (GRCm39)	missense	possibly damaging	0.85
R6819:Dnai2	UTSW	11	114,635,917 (GRCm39)	missense	probably benign	0.00
R7053:Dnai2	UTSW	11	114,629,521 (GRCm39)	missense	probably damaging	1.00
R7143:Dnai2	UTSW	11	114,645,076 (GRCm39)	missense	possibly damaging	0.86
R7208:Dnai2	UTSW	11	114,647,988 (GRCm39)	missense	unknown
R7275:Dnai2	UTSW	11	114,648,054 (GRCm39)	missense	unknown
R7463:Dnai2	UTSW	11	114,645,232 (GRCm39)	missense	probably benign	0.07
R7779:Dnai2	UTSW	11	114,645,235 (GRCm39)	missense	possibly damaging	0.50
R7899:Dnai2	UTSW	11	114,629,456 (GRCm39)	missense	probably benign	0.21
R8443:Dnai2	UTSW	11	114,645,275 (GRCm39)	missense	unknown
R8944:Dnai2	UTSW	11	114,641,302 (GRCm39)	missense	possibly damaging	0.58
R9081:Dnai2	UTSW	11	114,629,493 (GRCm39)	missense	probably damaging	0.97
R9182:Dnai2	UTSW	11	114,623,839 (GRCm39)	missense	probably benign	0.17
R9335:Dnai2	UTSW	11	114,625,489 (GRCm39)	missense	probably benign	0.01
R9380:Dnai2	UTSW	11	114,635,989 (GRCm39)	missense	probably benign	0.12
RF012:Dnai2	UTSW	11	114,641,242 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAGTACGTACCCCAATCC -3'
(R):5'- GCGACTGCAGTGATTAGCTTC -3'

Sequencing Primer
(F):5'- GTACGTACCCCAATCCCGATCG -3'
(R):5'- CTGCAGTGATTAGCTTCCTAAACGG -3'

Posted On

2016-07-06