Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:1110017D15Rik'

326829

Institutional Source

Beutler Lab

Gene Symbol

1110017D15Rik

Ensembl Gene

ENSMUSG00000028441

Gene Name

RIKEN cDNA 1110017D15 gene

Synonyms

Smrp1, Cbe1

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41505009-41517333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41505574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 183 (T183A)

Ref Sequence

ENSEMBL: ENSMUSP00000092744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]

AlphaFold

Q2MH31

Predicted Effect

silent
Transcript: ENSMUST00000030152

SMART Domains

Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054920

SMART Domains

Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312

Domain	Start	End	E-Value	Type
transmembrane domain	56	78	N/A	INTRINSIC
Pfam:Glyco_hydro_31	311	712	9.7e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095126
AA Change: T183A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: T183A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124019

Predicted Effect

unknown
Transcript: ENSMUST00000125303
AA Change: N179S

SMART Domains

Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: N179S

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	176	5.2e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138217

Predicted Effect

probably benign
Transcript: ENSMUST00000149596

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	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
IGL02645:1110017D15Rik	APN	4	41517080	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
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
R9493:1110017D15Rik	UTSW	4	41508614	missense
R9594:1110017D15Rik	UTSW	4	41505091	missense

Predicted Primers

PCR Primer
(F):5'- CAACCATTGACGTCCCATGG -3'
(R):5'- TCCCAGAGATTGTGCTGTAGTG -3'

Sequencing Primer
(F):5'- ATTGACGTCCCATGGCGCTAG -3'
(R):5'- CCTTAAGACTGATTCTGTATCCAGG -3'

Posted On

2015-07-07