Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:1110004E09Rik'

361207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1110004E09Rik

Ensembl Gene

ENSMUSG00000022972

Gene Name

RIKEN cDNA 1110004E09 gene

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

90925809-90935114 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90926062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 261 (D261E)

Ref Sequence

ENSEMBL: ENSMUSP00000023694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000125519] [ENSMUST00000142340] [ENSMUST00000149833]

AlphaFold

Q8BL95

Predicted Effect

probably benign
Transcript: ENSMUST00000023694
AA Change: D261E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: D261E

Domain	Start	End	E-Value	Type
Pfam:DUF2870	189	285	4.7e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125519

Predicted Effect

probably benign
Transcript: ENSMUST00000129345
AA Change: D126E

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

SMART Domains

Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: D126E

Domain	Start	End	E-Value	Type
Pfam:DUF2870	87	122	6.2e-17	PFAM
Pfam:DUF2870	118	151	4.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131583

Predicted Effect

probably benign
Transcript: ENSMUST00000142340

Predicted Effect

probably benign
Transcript: ENSMUST00000149833

SMART Domains

Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972

Domain	Start	End	E-Value	Type
Pfam:DUF2870	171	198	5.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232334

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	Het

Other mutations in 1110004E09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:1110004E09Rik	APN	16	90926048	missense	possibly damaging	0.60
IGL02607:1110004E09Rik	APN	16	90929947	missense	probably damaging	1.00
R0920:1110004E09Rik	UTSW	16	90927379	missense	probably damaging	0.98
R4586:1110004E09Rik	UTSW	16	90927426	missense	probably damaging	1.00
R5415:1110004E09Rik	UTSW	16	90926065	missense	probably benign	0.05
R5443:1110004E09Rik	UTSW	16	90927211	missense	probably benign
R8114:1110004E09Rik	UTSW	16	90934657	missense	probably benign
R8191:1110004E09Rik	UTSW	16	90931001	missense	probably damaging	0.99
R8699:1110004E09Rik	UTSW	16	90931057	missense	probably benign	0.03
R8876:1110004E09Rik	UTSW	16	90927393	missense	possibly damaging	0.70
R9440:1110004E09Rik	UTSW	16	90929944	missense	probably benign	0.17
R9612:1110004E09Rik	UTSW	16	90927387	missense	probably benign	0.00

Posted On

2015-12-18