Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02645:1110017D15Rik'

301904

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1110017D15Rik

Ensembl Gene

ENSMUSG00000028441

Gene Name

RIKEN cDNA 1110017D15 gene

Synonyms

Smrp1, Cbe1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02645

Quality Score

Status

Chromosome

Chromosomal Location

41505009-41517333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41517080 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 28 (V28A)

Ref Sequence

ENSEMBL: ENSMUSP00000092744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000095126] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030152
AA Change: V28A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
AA Change: V28A

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	260	3.3e-157	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095126
AA Change: V28A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: V28A

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	202	6.5e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108049

SMART Domains

Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	26	157	2.7e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108050

SMART Domains

Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	26	156	8.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108052

SMART Domains

Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	37	168	1.6e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151164

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 encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	T	C	14: 51,764,347	Y48C	probably damaging	Het
Aox2	T	A	1: 58,334,724	M848K	probably damaging	Het
Apol7c	A	T	15: 77,528,883	S56T	probably benign	Het
Asic4	G	A	1: 75,473,354		probably benign	Het
Asxl1	A	G	2: 153,392,857	K162R	possibly damaging	Het
BC053393	A	G	11: 46,586,220	R167G	probably benign	Het
Car12	T	A	9: 66,747,679	H130Q	probably benign	Het
Cars	T	C	7: 143,557,909	E737G	probably damaging	Het
Ccdc141	G	A	2: 77,074,867	R412*	probably null	Het
Cd36	T	C	5: 17,785,880	T421A	probably benign	Het
Clasp2	T	G	9: 113,890,061	M758R	probably damaging	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ebf4	A	G	2: 130,361,841	K471E	probably damaging	Het
Fat2	T	A	11: 55,282,828	D2353V	probably damaging	Het
Gm10136	A	G	19: 29,003,740		probably benign	Het
Intu	A	G	3: 40,701,272	I930V	probably benign	Het
Ndrg2	T	A	14: 51,906,522	M300L	possibly damaging	Het
Nhs	A	G	X: 162,159,058	S111P	probably benign	Het
Nme8	T	A	13: 19,660,585	L111F	probably damaging	Het
Nol8	T	A	13: 49,665,471		probably null	Het
Olfr1148	C	T	2: 87,833,615	T192M	probably benign	Het
Olfr1221	T	C	2: 89,111,619	R298G	probably benign	Het
Olfr1249	T	C	2: 89,630,335	T188A	probably benign	Het
Olfr1511	T	A	14: 52,390,501	T91S	possibly damaging	Het
Pcdhac2	G	A	18: 37,145,239	G424D	probably damaging	Het
Pex3	T	G	10: 13,546,429	E42D	possibly damaging	Het
Plxnb1	C	T	9: 109,114,243		probably benign	Het
Rpe65	T	A	3: 159,606,491	I209N	probably damaging	Het
Rsl1	T	A	13: 67,182,209	F240L	probably benign	Het
Rttn	A	T	18: 89,110,686	I1921F	probably benign	Het
Scn3a	A	T	2: 65,514,527	F539Y	probably benign	Het
Secisbp2	T	A	13: 51,682,460	M767K	probably damaging	Het
Sipa1l3	C	T	7: 29,328,980		probably null	Het
Slfn8	T	C	11: 83,003,554	N753S	possibly damaging	Het
Sympk	T	G	7: 19,052,424	V984G	probably damaging	Het
Tacr3	A	T	3: 134,861,182	D272V	possibly damaging	Het
Tnpo3	G	T	6: 29,562,900	S606*	probably null	Het
Zfp804a	T	C	2: 82,053,876	L29P	possibly damaging	Het
Zfp94	C	T	7: 24,303,754	G88R	probably benign	Het

Other mutations in 1110017D15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:1110017D15Rik	APN	4	41507178	missense	probably damaging	1.00
IGL01062:1110017D15Rik	APN	4	41511433	missense	probably damaging	1.00
IGL03124:1110017D15Rik	APN	4	41507287	missense	possibly damaging	0.87
R0284:1110017D15Rik	UTSW	4	41507538	missense	probably damaging	1.00
R1760:1110017D15Rik	UTSW	4	41507330	critical splice acceptor site	probably null
R1761:1110017D15Rik	UTSW	4	41507223	missense	probably damaging	1.00
R2073:1110017D15Rik	UTSW	4	41507519	critical splice donor site	probably null
R2180:1110017D15Rik	UTSW	4	41507170	missense	probably benign	0.00
R4414:1110017D15Rik	UTSW	4	41505574	missense	possibly damaging	0.71
R4415:1110017D15Rik	UTSW	4	41505574	missense	possibly damaging	0.71
R4416:1110017D15Rik	UTSW	4	41505574	missense	possibly damaging	0.71
R4417:1110017D15Rik	UTSW	4	41505574	missense	possibly damaging	0.71
R4516:1110017D15Rik	UTSW	4	41517200	unclassified	probably benign
R5132:1110017D15Rik	UTSW	4	41517178	unclassified	probably benign
R6132:1110017D15Rik	UTSW	4	41517160	start codon destroyed	probably null	0.98
R6413:1110017D15Rik	UTSW	4	41505135	missense	possibly damaging	0.86
R8519:1110017D15Rik	UTSW	4	41505071	missense	possibly damaging	0.93

Posted On

2015-04-16