Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Dnaaf11'

686167

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf11

Ensembl Gene

ENSMUSG00000022375

Gene Name

dynein axonemal assembly factor 11

Synonyms

LRTP, Lrrc6

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66251707-66372759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66321479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 221 (S221T)

Ref Sequence

ENSEMBL: ENSMUSP00000023006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023006]

AlphaFold

O88978

Predicted Effect

probably benign
Transcript: ENSMUST00000023006
AA Change: S221T

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

SMART Domains

Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: S221T

Domain	Start	End	E-Value	Type
internal_repeat_1	23	65	8.03e-6	PROSPERO
internal_repeat_1	68	109	8.03e-6	PROSPERO
LRRcap	128	146	2.42e-2	SMART
low complexity region	178	204	N/A	INTRINSIC
low complexity region	277	290	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	449	471	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,532 (GRCm39)	E1552G	probably damaging	Het
Abca14	A	T	7: 119,888,763 (GRCm39)	K1236N	probably benign	Het
Adam3	A	T	8: 25,184,292 (GRCm39)	Y569*	probably null	Het
Adgrb2	A	G	4: 129,907,659 (GRCm39)	T998A	probably benign	Het
Adgre4	T	A	17: 56,098,993 (GRCm39)	H166Q	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Ankrd11	A	G	8: 123,622,251 (GRCm39)	S534P	probably damaging	Het
Atn1	C	T	6: 124,722,661 (GRCm39)	E805K	unknown	Het
Bsn	T	C	9: 107,994,488 (GRCm39)	T596A	probably benign	Het
Cacnb4	C	T	2: 52,324,706 (GRCm39)	R452Q	probably benign	Het
Cdc123	C	A	2: 5,849,683 (GRCm39)	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083 (GRCm39)	G1609S	possibly damaging	Het
Cp	T	A	3: 20,043,316 (GRCm39)	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,742,836 (GRCm39)	C1383S	probably damaging	Het
Derl3	G	A	10: 75,729,604 (GRCm39)	V54I	probably benign	Het
Dgcr6	T	C	16: 17,884,607 (GRCm39)	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,650,985 (GRCm39)	E57G	probably benign	Het
Dst	A	G	1: 34,235,140 (GRCm39)	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,696,014 (GRCm39)	T415A	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbln1	T	C	15: 85,126,215 (GRCm39)	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004 (GRCm39)	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,675,702 (GRCm39)	K72Q	probably benign	Het
Impg1	T	A	9: 80,301,474 (GRCm39)	I228F	probably benign	Het
Itsn2	A	G	12: 4,708,091 (GRCm39)	N799S	possibly damaging	Het
Jade1	T	A	3: 41,564,292 (GRCm39)	C521S	probably benign	Het
Katna1	T	G	10: 7,637,040 (GRCm39)	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,097,129 (GRCm39)	K250N	probably damaging	Het
Macc1	A	G	12: 119,409,941 (GRCm39)	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,996,760 (GRCm39)	R276C	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mindy4	C	T	6: 55,278,072 (GRCm39)	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,436,713 (GRCm39)	S544P	probably benign	Het
Muc4	T	C	16: 32,582,910 (GRCm39)	Y492H		Het
Mybbp1a	C	T	11: 72,334,420 (GRCm39)	T225I	probably benign	Het
Myo6	A	T	9: 80,159,086 (GRCm39)	K285I	unknown	Het
Nmd3	G	A	3: 69,647,328 (GRCm39)	V277I	probably benign	Het
Nol9	G	C	4: 152,123,918 (GRCm39)	R36P	probably damaging	Het
Nom1	A	G	5: 29,639,712 (GRCm39)	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,902,906 (GRCm39)	H40Y	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5b118	A	T	19: 13,448,721 (GRCm39)	H87L	possibly damaging	Het
Or8d1b	T	A	9: 38,887,687 (GRCm39)	F238L	probably benign	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pgghg	A	G	7: 140,524,579 (GRCm39)	I309V	probably benign	Het
Phf12	C	T	11: 77,914,510 (GRCm39)	P651S	possibly damaging	Het
Pltp	A	G	2: 164,694,410 (GRCm39)	L199P	probably damaging	Het
Pole	T	A	5: 110,437,675 (GRCm39)	L78I	probably benign	Het
Ppm1d	C	A	11: 85,227,961 (GRCm39)	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 34,105,787 (GRCm39)	I224L	probably benign	Het
Rabggta	A	T	14: 55,957,880 (GRCm39)	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,712,132 (GRCm39)	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,319,490 (GRCm39)	E970K	probably benign	Het
Rnh1	A	T	7: 140,748,544 (GRCm39)	V11D	probably benign	Het
Robo4	C	T	9: 37,315,520 (GRCm39)	T288I	probably benign	Het
Scmh1	A	G	4: 120,362,514 (GRCm39)	D250G	probably benign	Het
Sele	T	A	1: 163,881,248 (GRCm39)	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,174,585 (GRCm39)		probably benign	Het
Slc5a4a	A	G	10: 76,002,546 (GRCm39)	E234G	possibly damaging	Het
Smarca5	A	G	8: 81,431,355 (GRCm39)	L954P	probably damaging	Het
St7	T	A	6: 17,906,494 (GRCm39)	N413K	probably damaging	Het
Stam2	C	T	2: 52,606,463 (GRCm39)	V141I	probably benign	Het
Stim1	C	T	7: 102,060,482 (GRCm39)	T175I	probably benign	Het
Strap	A	G	6: 137,716,811 (GRCm39)	N130S	probably benign	Het
Stxbp2	A	G	8: 3,692,627 (GRCm39)		probably benign	Het
Sult3a2	T	A	10: 33,655,689 (GRCm39)	I97F	probably benign	Het
Tbc1d32	A	T	10: 55,948,693 (GRCm39)	N965K	probably benign	Het
Tle3	T	A	9: 61,319,750 (GRCm39)	I506N	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tvp23a	A	G	16: 10,264,846 (GRCm39)	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,232,539 (GRCm39)	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,316,020 (GRCm39)	N472S	probably damaging	Het
Xpo7	G	A	14: 70,944,864 (GRCm39)	Q10*	probably null	Het
Zfp423	G	C	8: 88,508,381 (GRCm39)	S654R	probably benign	Het
Zfp646	A	T	7: 127,478,243 (GRCm39)	H140L	probably benign	Het
Zfp719	C	A	7: 43,233,489 (GRCm39)		probably benign	Het

Other mutations in Dnaaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Dnaaf11	APN	15	66,353,082 (GRCm39)	splice site	probably benign
IGL01313:Dnaaf11	APN	15	66,252,362 (GRCm39)	missense	probably benign	0.00
IGL01739:Dnaaf11	APN	15	66,321,326 (GRCm39)	missense	probably benign
IGL01863:Dnaaf11	APN	15	66,268,823 (GRCm39)	splice site	probably benign
IGL02074:Dnaaf11	APN	15	66,361,339 (GRCm39)	missense	probably damaging	1.00
IGL02146:Dnaaf11	APN	15	66,361,375 (GRCm39)	missense	probably benign	0.08
IGL02146:Dnaaf11	APN	15	66,361,374 (GRCm39)	nonsense	probably null
IGL03194:Dnaaf11	APN	15	66,314,048 (GRCm39)	missense	probably benign	0.03
droopy	UTSW	15	66,319,525 (GRCm39)	splice site	probably benign
R0087:Dnaaf11	UTSW	15	66,341,824 (GRCm39)	missense	probably benign	0.00
R0178:Dnaaf11	UTSW	15	66,325,950 (GRCm39)	missense	probably benign	0.05
R0463:Dnaaf11	UTSW	15	66,252,323 (GRCm39)	missense	probably benign
R0539:Dnaaf11	UTSW	15	66,319,455 (GRCm39)	missense	probably damaging	0.99
R0608:Dnaaf11	UTSW	15	66,252,323 (GRCm39)	missense	probably benign
R1124:Dnaaf11	UTSW	15	66,310,264 (GRCm39)	missense	possibly damaging	0.92
R2209:Dnaaf11	UTSW	15	66,321,400 (GRCm39)	missense	probably benign	0.00
R2257:Dnaaf11	UTSW	15	66,309,436 (GRCm39)	splice site	probably benign
R2844:Dnaaf11	UTSW	15	66,319,525 (GRCm39)	splice site	probably benign
R2867:Dnaaf11	UTSW	15	66,310,257 (GRCm39)	nonsense	probably null
R2867:Dnaaf11	UTSW	15	66,310,257 (GRCm39)	nonsense	probably null
R4281:Dnaaf11	UTSW	15	66,252,378 (GRCm39)	missense	probably benign	0.35
R5163:Dnaaf11	UTSW	15	66,314,067 (GRCm39)	missense	probably benign	0.01
R5636:Dnaaf11	UTSW	15	66,372,665 (GRCm39)	splice site	probably null
R6365:Dnaaf11	UTSW	15	66,325,983 (GRCm39)	missense	probably benign	0.00
R6567:Dnaaf11	UTSW	15	66,310,228 (GRCm39)	missense	probably benign	0.43
R7751:Dnaaf11	UTSW	15	66,321,412 (GRCm39)	missense	probably benign	0.00
R7774:Dnaaf11	UTSW	15	66,321,401 (GRCm39)	missense	probably benign	0.01
R7963:Dnaaf11	UTSW	15	66,252,366 (GRCm39)	missense	probably damaging	1.00
R9499:Dnaaf11	UTSW	15	66,361,483 (GRCm39)	missense	probably damaging	0.97
Z1177:Dnaaf11	UTSW	15	66,341,748 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCACTGGAGATTGATTCACTCAG -3'
(R):5'- GGGCAATGATTTCCTTCACCTTAG -3'

Sequencing Primer
(F):5'- TGGAGATTGATTCACTCAGTTATAGG -3'
(R):5'- AATGATTTCCTTCACCTTAGTTCATG -3'

Posted On

2021-10-11