Mutagenetix > Incidental Mutation

Incidental Mutation 'R9170:Dnaaf1'

696353

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf1

Ensembl Gene

ENSMUSG00000031831

Gene Name

dynein, axonemal assembly factor 1

Synonyms

Lrrc50, m4Bei, 4930457P18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R9170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120301974-120325193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120302195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 32 (I32T)

Ref Sequence

ENSEMBL: ENSMUSP00000090790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036049] [ENSMUST00000093100] [ENSMUST00000212065] [ENSMUST00000212198]

AlphaFold

Q9D2H9

Predicted Effect

probably benign
Transcript: ENSMUST00000036049

SMART Domains

Protein: ENSMUSP00000044371
Gene: ENSMUSG00000034189

Domain	Start	End	E-Value	Type
Pfam:adh_short	68	260	1.3e-37	PFAM
Pfam:adh_short_C2	74	256	3.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093100
AA Change: I32T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
AA Change: I32T

Domain	Start	End	E-Value	Type
Pfam:LRR_9	115	298	5.7e-10	PFAM
low complexity region	322	332	N/A	INTRINSIC
low complexity region	482	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212065

Predicted Effect

probably benign
Transcript: ENSMUST00000212198

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,516 (GRCm39)	K702E	probably benign	Het
Agbl1	T	C	7: 75,985,069 (GRCm39)	I162T		Het
Agpat2	A	T	2: 26,487,230 (GRCm39)	I101N	possibly damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Arhgap32	G	A	9: 32,162,039 (GRCm39)	R330H	possibly damaging	Het
Asb4	T	A	6: 5,390,775 (GRCm39)	I56N	probably benign	Het
Atp2a2	C	T	5: 122,604,087 (GRCm39)	V449M	possibly damaging	Het
Bend4	A	G	5: 67,575,080 (GRCm39)	L267P	probably damaging	Het
Catspere2	T	A	1: 177,967,949 (GRCm39)	N745K	probably benign	Het
Celf2	A	G	2: 6,554,646 (GRCm39)	F484L	possibly damaging	Het
Chd3	T	C	11: 69,241,648 (GRCm39)	D1495G	possibly damaging	Het
Chrna3	A	T	9: 54,933,671 (GRCm39)	V8D	unknown	Het
Cog3	T	C	14: 75,966,802 (GRCm39)	Y466C	probably damaging	Het
Col5a1	A	G	2: 27,841,363 (GRCm39)	E328G	unknown	Het
Col7a1	A	G	9: 108,785,707 (GRCm39)	Y392C	unknown	Het
Crtc3	A	T	7: 80,248,697 (GRCm39)	N255K	probably damaging	Het
Dner	A	T	1: 84,512,647 (GRCm39)	C307S	probably damaging	Het
Dzip3	T	C	16: 48,772,401 (GRCm39)	K423E	possibly damaging	Het
Eif2b4	A	G	5: 31,345,393 (GRCm39)	S414P	probably damaging	Het
Elp4	T	C	2: 105,624,891 (GRCm39)	E334G	probably damaging	Het
Emilin2	T	A	17: 71,587,689 (GRCm39)	N141I	probably benign	Het
Fstl1	T	A	16: 37,647,140 (GRCm39)	V170E	probably damaging	Het
Fxn	A	G	19: 24,244,687 (GRCm39)	I151T	probably damaging	Het
Gtf3c4	A	T	2: 28,730,214 (GRCm39)	V9E	possibly damaging	Het
Ino80d	A	G	1: 63,132,607 (GRCm39)	S19P	probably damaging	Het
Kank3	T	G	17: 34,037,242 (GRCm39)	L370R	probably damaging	Het
Large1	T	A	8: 73,542,645 (GRCm39)	Y693F	probably benign	Het
Lig4	C	A	8: 10,022,202 (GRCm39)	W526L	probably damaging	Het
Mib1	C	T	18: 10,726,437 (GRCm39)	P45S	probably benign	Het
Ndufaf6	T	C	4: 11,070,301 (GRCm39)	K107E	probably benign	Het
Nf1	T	C	11: 79,436,291 (GRCm39)	L1977P	probably damaging	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or52s6	G	A	7: 103,091,850 (GRCm39)	P160L	probably damaging	Het
Or52z15	T	A	7: 103,332,404 (GRCm39)	F160I	probably benign	Het
Pappa	G	A	4: 65,258,962 (GRCm39)	R1570Q	probably damaging	Het
Parp6	G	A	9: 59,531,213 (GRCm39)	A32T		Het
Pclo	A	G	5: 14,731,068 (GRCm39)	Q64R		Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,341,600 (GRCm39)	S10P	possibly damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prf1	A	C	10: 61,136,216 (GRCm39)	D164A	probably damaging	Het
Rarres1	A	G	3: 67,386,924 (GRCm39)	V226A	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,948,375 (GRCm39)	L106P	probably damaging	Het
Scnn1b	A	T	7: 121,511,326 (GRCm39)	T338S	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc9a5	T	C	8: 106,080,139 (GRCm39)	V94A	probably damaging	Het
Slco4a1	A	G	2: 180,106,478 (GRCm39)	D220G	probably benign	Het
Spata31e2	T	A	1: 26,723,485 (GRCm39)	Q565L	possibly damaging	Het
Sult1c2	T	C	17: 54,269,200 (GRCm39)	D272G	possibly damaging	Het
Tgm1	T	C	14: 55,946,355 (GRCm39)	N427S	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tnni3	A	T	7: 4,521,376 (GRCm39)	F209L	probably damaging	Het
Ttn	T	A	2: 76,745,912 (GRCm39)	S5046C	probably damaging	Het
Tubb2a	T	A	13: 34,260,628 (GRCm39)	I24L	probably benign	Het
Uevld	C	A	7: 46,587,746 (GRCm39)	G318V	probably damaging	Het
Unkl	T	C	17: 25,448,350 (GRCm39)	S308P	probably benign	Het
Vmn1r159	C	A	7: 22,542,765 (GRCm39)	C89F	probably damaging	Het
Wee2	T	G	6: 40,437,977 (GRCm39)	S302A	probably benign	Het
Ydjc	T	C	16: 16,965,666 (GRCm39)	C144R	probably benign	Het
Zc3h12c	A	G	9: 52,027,419 (GRCm39)	S667P	probably benign	Het
Zfp280b	T	A	10: 75,874,651 (GRCm39)	Y177N	probably benign	Het
Zfp354b	C	T	11: 50,814,362 (GRCm39)	E188K	probably benign	Het

Other mutations in Dnaaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Dnaaf1	APN	8	120,309,317 (GRCm39)	missense	probably damaging	1.00
IGL02664:Dnaaf1	APN	8	120,309,260 (GRCm39)	missense	probably damaging	1.00
IGL02755:Dnaaf1	APN	8	120,317,410 (GRCm39)	missense	probably damaging	0.99
IGL03391:Dnaaf1	APN	8	120,309,355 (GRCm39)	missense	probably damaging	1.00
R7097_Dnaaf1_566	UTSW	8	120,323,538 (GRCm39)	missense	possibly damaging	0.94
R0329:Dnaaf1	UTSW	8	120,322,756 (GRCm39)	unclassified	probably benign
R0467:Dnaaf1	UTSW	8	120,317,471 (GRCm39)	missense	probably benign
R0483:Dnaaf1	UTSW	8	120,317,405 (GRCm39)	missense	possibly damaging	0.88
R1464:Dnaaf1	UTSW	8	120,306,049 (GRCm39)	missense	probably damaging	0.99
R1464:Dnaaf1	UTSW	8	120,306,049 (GRCm39)	missense	probably damaging	0.99
R1532:Dnaaf1	UTSW	8	120,304,162 (GRCm39)	missense	probably benign
R1847:Dnaaf1	UTSW	8	120,309,616 (GRCm39)	missense	probably benign	0.41
R2060:Dnaaf1	UTSW	8	120,317,341 (GRCm39)	missense	probably benign	0.27
R2108:Dnaaf1	UTSW	8	120,309,471 (GRCm39)	critical splice donor site	probably null
R2356:Dnaaf1	UTSW	8	120,315,026 (GRCm39)	missense	probably damaging	1.00
R4801:Dnaaf1	UTSW	8	120,304,100 (GRCm39)	missense	probably benign	0.10
R4802:Dnaaf1	UTSW	8	120,304,100 (GRCm39)	missense	probably benign	0.10
R5232:Dnaaf1	UTSW	8	120,317,329 (GRCm39)	missense	probably benign	0.42
R6846:Dnaaf1	UTSW	8	120,309,401 (GRCm39)	missense	probably damaging	1.00
R7080:Dnaaf1	UTSW	8	120,309,335 (GRCm39)	missense	probably damaging	1.00
R7097:Dnaaf1	UTSW	8	120,323,538 (GRCm39)	missense	possibly damaging	0.94
R7360:Dnaaf1	UTSW	8	120,304,090 (GRCm39)	missense	probably benign	0.37
R7940:Dnaaf1	UTSW	8	120,309,454 (GRCm39)	missense	possibly damaging	0.57
R8773:Dnaaf1	UTSW	8	120,302,194 (GRCm39)	missense	probably benign
R9090:Dnaaf1	UTSW	8	120,324,392 (GRCm39)	missense	probably benign	0.30
R9271:Dnaaf1	UTSW	8	120,324,392 (GRCm39)	missense	probably benign	0.30
R9562:Dnaaf1	UTSW	8	120,309,392 (GRCm39)	missense	probably damaging	0.99
R9607:Dnaaf1	UTSW	8	120,309,350 (GRCm39)	missense	possibly damaging	0.78
R9622:Dnaaf1	UTSW	8	120,315,001 (GRCm39)	missense	possibly damaging	0.89
R9667:Dnaaf1	UTSW	8	120,306,043 (GRCm39)	missense	possibly damaging	0.76
Z1176:Dnaaf1	UTSW	8	120,302,180 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AATACCTGCAGCGAGAGGC -3'
(R):5'- AATTCCCAGCCACAGGAAGG -3'

Sequencing Primer
(F):5'- TAACTGACTGCGCGTGC -3'
(R):5'- GGGTCTTCTATATGTACTGGATT -3'

Posted On

2022-02-07