Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:1110004E09Rik'

74709

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 #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

90925809-90935114 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90926048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 266 (N266S)

Ref Sequence

ENSEMBL: ENSMUSP00000023694 (fasta)

Gene Model

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

AlphaFold

Q8BL95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023694
AA Change: N266S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: N266S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125519

Predicted Effect

unknown
Transcript: ENSMUST00000129345
AA Change: N131S

SMART Domains

Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: N131S

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,551,855	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,836,115	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,348,380	I195V	probably damaging	Het
Casp7	T	C	19: 56,404,464	S17P	probably benign	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpvl	T	A	6: 53,974,655	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,759,417	M138I	probably benign	Het
Dennd5a	T	C	7: 109,919,404	Y510C	possibly damaging	Het
Derl2	A	G	11: 71,010,355	F229S	possibly damaging	Het
Dlec1	A	G	9: 119,120,911	E452G	probably damaging	Het
Dsc2	T	C	18: 20,047,157	K180E	probably benign	Het
Dus1l	G	A	11: 120,793,092	R177C	possibly damaging	Het
Egfr	A	G	11: 16,863,020	I167V	probably damaging	Het
Fam219b	A	T	9: 57,538,022		probably null	Het
Fn1	T	C	1: 71,626,210	E916G	probably damaging	Het
Gm2058	C	T	7: 39,589,156		noncoding transcript	Het
Gpd1	T	A	15: 99,718,175	V22E	probably damaging	Het
Hsf2	T	C	10: 57,501,379	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,820,099		probably benign	Het
Igfbp3	A	T	11: 7,208,478	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,455,433	Y62H	probably damaging	Het
Lama2	C	T	10: 27,188,272	E1238K	probably benign	Het
Man1b1	A	G	2: 25,338,227	K170E	probably benign	Het
Mcrs1	A	T	15: 99,249,501	I39N	probably damaging	Het
Mug2	T	C	6: 122,049,628		probably benign	Het
Neu3	C	A	7: 99,813,422	G365W	probably damaging	Het
Nipal3	A	C	4: 135,471,883		probably null	Het
Nrxn3	A	G	12: 89,255,034	I528V	possibly damaging	Het
Olfr122	A	T	17: 37,771,839	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,267,747	K204R	probably damaging	Het
Pax8	A	G	2: 24,435,919	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,756,141	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,059,520	K649*	probably null	Het
Ppm1n	A	T	7: 19,279,254	D257E	probably benign	Het
Pxdn	A	G	12: 30,002,797	E811G	probably damaging	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rtkn2	G	T	10: 68,025,519	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,784,161		probably benign	Het
Snx8	G	A	5: 140,358,096	R96C	probably damaging	Het
Syne2	A	T	12: 76,060,226	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,695,222	C82*	probably null	Het
Tnpo2	T	C	8: 85,040,526	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,417,415		probably benign	Het
Ttll3	T	G	6: 113,394,729	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119	I86V	probably benign	Het
Vps13d	G	A	4: 145,088,322	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636	I753T	probably damaging	Het

Other mutations in 1110004E09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02607:1110004E09Rik	APN	16	90929947	missense	probably damaging	1.00
IGL02826:1110004E09Rik	APN	16	90926062	missense	probably benign	0.02
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

2013-10-07