Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:1110017D15Rik'

658514

Institutional Source

Beutler Lab

Gene Symbol

1110017D15Rik

Ensembl Gene

ENSMUSG00000028441

Gene Name

RIKEN cDNA 1110017D15 gene

Synonyms

Smrp1, Cbe1

MMRRC Submission

067946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41505009-41517333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41505071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 214 (S214P)

Gene Model

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

AlphaFold

Q2MH31

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000095126

SMART Domains

Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125303
AA Change: S214P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: S214P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149596

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,773,236	D338G	probably damaging	Het
Adamts14	T	C	10: 61,202,840	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,193,557	W1156*	probably null	Het
Adcy9	T	C	16: 4,288,128	I1041V	possibly damaging	Het
Art4	C	A	6: 136,854,351		probably null	Het
Bcl9	A	G	3: 97,209,018	S787P	probably benign	Het
Bptf	T	C	11: 107,061,764	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,808,847	N76S	probably damaging	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cldn10	T	G	14: 118,855,027	V13G	probably benign	Het
Cnot6	G	T	11: 49,685,114	Q178K	probably benign	Het
Crot	T	C	5: 8,973,629	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,401,453	H232L	possibly damaging	Het
Cuzd1	T	C	7: 131,308,897	I556M	possibly damaging	Het
Cyp2c54	G	A	19: 40,038,413	R433W	probably damaging	Het
Cyp2j11	A	G	4: 96,319,302	F259L	probably benign	Het
Dhx9	C	T	1: 153,473,176	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,099	V1536M	probably benign	Het
Erlin1	T	A	19: 44,069,602		probably benign	Het
Foxb2	C	A	19: 16,872,983	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,410,709	T388S	probably benign	Het
Gimap5	T	C	6: 48,753,134	C213R	probably benign	Het
Gkap1	T	G	13: 58,238,692	K57N	probably damaging	Het
Gm10696	T	C	3: 94,176,190	M105V	probably benign	Het
Gm14139	A	G	2: 150,192,780	I340M	probably benign	Het
Gm15922	T	C	7: 3,737,433	Q263R	probably benign	Het
H60b	T	G	10: 22,283,522		probably benign	Het
Hectd4	C	T	5: 121,304,426	R670*	probably null	Het
Hoxc9	A	G	15: 102,983,909	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,121,782	E105G	possibly damaging	Het
Klk10	T	A	7: 43,782,815	Y57*	probably null	Het
Lrrc63	A	T	14: 75,125,872	I273K	possibly damaging	Het
M6pr	T	C	6: 122,315,066	I119T	probably damaging	Het
Mael	T	C	1: 166,235,558		probably null	Het
Magi1	A	G	6: 93,704,349	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,136,777	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,310,463		probably benign	Het
Mrc2	A	G	11: 105,347,306	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,730,848	V164A	probably benign	Het
Mynn	C	A	3: 30,607,141	P124H	probably damaging	Het
Olfr267	A	G	4: 58,785,203	I173T	probably damaging	Het
Olfr300-ps1	A	T	7: 86,443,854	N291I	probably damaging	Het
Olfr323	T	G	11: 58,625,974	Q23P	probably damaging	Het
Olfr330	A	G	11: 58,529,503	F161S	possibly damaging	Het
Olfr420	A	G	1: 174,159,048	I92V	probably damaging	Het
Pcif1	A	G	2: 164,884,383	N68S	probably damaging	Het
Pcm1	T	A	8: 41,275,939	N649K	probably damaging	Het
Plxna2	T	A	1: 194,793,958	I1162N	probably damaging	Het
Pnp2	T	A	14: 50,964,385	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,848,362	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,664,779	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,454,707	F187L	probably benign	Het
Smg1	T	C	7: 118,171,759		probably benign	Het
Stn1	T	C	19: 47,501,672	H342R	probably benign	Het
Sult1c1	A	T	17: 53,969,681	H117Q	probably damaging	Het
Thap1	G	A	8: 26,160,897	R42K	probably damaging	Het
Tpp2	A	T	1: 43,977,205		probably null	Het
Trib2	G	T	12: 15,815,346	P76Q	probably damaging	Het
Ttc24	G	T	3: 88,073,062	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,416,647	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,176,643		probably null	Het
Ugt2b1	A	G	5: 86,926,467	L11S	probably damaging	Het
Uso1	T	G	5: 92,195,363	S769A	probably benign	Het
Vmn2r117	T	C	17: 23,479,468	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,486,348	L497F	probably benign	Het
Vsig10l	G	A	7: 43,464,902	S318N	probably benign	Het
Wbp4	A	G	14: 79,476,823	L83P	probably damaging	Het
Wnk1	G	A	6: 119,950,083	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,295,241	V198M	probably damaging	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
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
R9493:1110017D15Rik	UTSW	4	41508614	missense
R9594:1110017D15Rik	UTSW	4	41505091	missense

Predicted Primers

PCR Primer
(F):5'- ATCTGGATGGTTAGGGGAACTC -3'
(R):5'- CAGTGATCGGTCAGTGTCAG -3'

Sequencing Primer
(F):5'- GATGGTTAGGGGAACTCATCTC -3'
(R):5'- TCAGTGTCAGAGATAAAACGCTG -3'

Posted On

2021-01-18