Mutagenetix > Incidental Mutations

Incidental Mutation 'R0920:1110004E09Rik'

82835

Institutional Source

Beutler Lab

Gene Symbol

1110004E09Rik

Ensembl Gene

ENSMUSG00000022972

Gene Name

RIKEN cDNA 1110004E09 gene

Synonyms

MMRRC Submission

039070-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R0920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90925809-90935114 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90927379 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 125 (E125K)

Ref Sequence

ENSEMBL: ENSMUSP00000120107 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023694
AA Change: E169K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972
AA Change: E169K

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

Predicted Effect

silent
Transcript: ENSMUST00000125519

Predicted Effect

unknown
Transcript: ENSMUST00000129345
AA Change: E66K

SMART Domains

Protein: ENSMUSP00000122163
Gene: ENSMUSG00000022972
AA Change: E66K

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 damaging
Transcript: ENSMUST00000142340
AA Change: E125K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149833
AA Change: E152K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972
AA Change: E152K

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

Meta Mutation Damage Score

0.5200

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	G	13: 70,763,561		probably benign	Het
Adgra3	A	G	5: 49,961,161	V1015A	probably benign	Het
Armc5	G	T	7: 128,240,319	A270S	probably damaging	Het
Cacng1	A	C	11: 107,705,856		probably benign	Het
Ccdc33	T	C	9: 58,033,672	D429G	probably damaging	Het
Ccdc88b	G	T	19: 6,846,649	A1412E	probably benign	Het
Clock	A	T	5: 76,230,320	S578T	possibly damaging	Het
Crp	T	C	1: 172,698,522	F58S	probably damaging	Het
Dlg5	T	A	14: 24,176,397	Q125L	probably damaging	Het
Eif3i	T	C	4: 129,595,257		probably benign	Het
Gm13124	T	C	4: 144,561,126		probably benign	Het
Gucy1a2	A	C	9: 3,759,472	D426A	probably damaging	Het
Hpcal1	C	T	12: 17,791,097		probably benign	Het
Inf2	T	A	12: 112,610,287		probably benign	Het
Kdm7a	A	G	6: 39,151,322	L525P	probably damaging	Het
Kirrel3	A	T	9: 35,028,352	I152F	probably damaging	Het
Knl1	T	A	2: 119,069,828	I670K	probably benign	Het
Krt76	T	C	15: 101,892,439	T141A	possibly damaging	Het
Ldb3	T	C	14: 34,567,503	T249A	probably benign	Het
Magi3	A	T	3: 104,034,191		probably null	Het
Mfn1	A	G	3: 32,534,236		probably null	Het
Myb	G	T	10: 21,126,234	T736K	possibly damaging	Het
Myo5b	A	C	18: 74,625,641	K231T	probably benign	Het
Myt1l	T	A	12: 29,886,139	C909S	unknown	Het
Npas4	C	A	19: 4,986,316	E607*	probably null	Het
Nphp3	A	G	9: 104,031,907	N772S	probably benign	Het
Nup88	G	T	11: 70,956,320	P288Q	possibly damaging	Het
Olfr166	A	T	16: 19,486,930	I31F	probably benign	Het
Pknox1	C	A	17: 31,596,891	Q240K	probably damaging	Het
Plce1	A	C	19: 38,736,521	T1439P	probably damaging	Het
Ppp1r42	T	A	1: 9,999,525	N104I	probably damaging	Het
Prkar2a	T	A	9: 108,719,297		probably benign	Het
Stox2	C	T	8: 47,193,018	R469Q	probably damaging	Het
Syna	A	G	5: 134,559,102	V331A	probably benign	Het
Vmn1r58	A	T	7: 5,410,789	N147K	probably benign	Het
Zdhhc6	A	T	19: 55,311,701	L148H	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
IGL02826:1110004E09Rik	APN	16	90926062	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- CTCACCTGCTGGATCTTGACGATG -3'
(R):5'- TTCTGAAGTGGACGGTAGTCACCC -3'

Sequencing Primer
(F):5'- CCCACATAGTCAGAAAGCTTCTTTG -3'
(R):5'- CTGAAAGCAGCAGCTCTTTG -3'

Posted On

2013-11-08