Mutagenetix > Incidental Mutation

Incidental Mutation 'R4414:1110017D15Rik'

328055

Institutional Source

Beutler Lab

Gene Symbol

1110017D15Rik

Ensembl Gene

ENSMUSG00000028441

Gene Name

RIKEN cDNA 1110017D15 gene

Synonyms

Smrp1, Cbe1

MMRRC Submission

041694-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4414 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	A	14: 44,169,233 (GRCm38)	M120L	probably benign	Het
Aco2	A	G	15: 81,889,383 (GRCm38)		probably null	Het
Acss1	A	G	2: 150,659,903 (GRCm38)	S115P	possibly damaging	Het
Ank2	A	T	3: 127,225,762 (GRCm38)		probably null	Het
AU041133	C	T	10: 82,151,482 (GRCm38)	T323M	probably damaging	Het
Bdp1	T	C	13: 100,030,861 (GRCm38)	D2215G	probably damaging	Het
Bod1l	G	A	5: 41,820,527 (GRCm38)	T1148I	probably benign	Het
Celsr1	C	T	15: 85,963,133 (GRCm38)	V1468I	probably benign	Het
Celsr1	A	G	15: 85,927,999 (GRCm38)	V2065A	probably damaging	Het
Cep89	A	G	7: 35,416,397 (GRCm38)		probably benign	Het
Cfap58	A	G	19: 47,953,041 (GRCm38)	K283E	possibly damaging	Het
Cog5	C	T	12: 31,660,854 (GRCm38)	Q78*	probably null	Het
Col20a1	C	T	2: 181,001,250 (GRCm38)	R796C	possibly damaging	Het
Dnah7b	A	T	1: 46,126,680 (GRCm38)	T502S	probably benign	Het
Dnm1l	A	G	16: 16,342,695 (GRCm38)		probably null	Het
Dse	A	T	10: 34,152,636 (GRCm38)	F819L	probably benign	Het
Eloa	G	T	4: 136,011,242 (GRCm38)	L136I	possibly damaging	Het
Eloa	T	A	4: 136,011,265 (GRCm38)	H128L	probably benign	Het
Fbxl6	T	C	15: 76,537,724 (GRCm38)	E205G	possibly damaging	Het
Golim4	T	G	3: 75,895,040 (GRCm38)	N287T	probably benign	Het
Gpx8	T	A	13: 113,043,148 (GRCm38)	K206N	possibly damaging	Het
Iqgap3	G	T	3: 88,096,986 (GRCm38)	V460F	probably benign	Het
Kcne4	A	T	1: 78,817,934 (GRCm38)	M100L	probably benign	Het
Kmt2a	A	T	9: 44,809,780 (GRCm38)		probably benign	Het
Ktn1	G	A	14: 47,724,930 (GRCm38)	W1117*	probably null	Het
Lad1	A	G	1: 135,828,746 (GRCm38)	D364G	probably benign	Het
Lmln	T	G	16: 33,109,850 (GRCm38)	I559S	probably benign	Het
Mapk4	A	T	18: 73,930,538 (GRCm38)	F538I	possibly damaging	Het
Mlxipl	A	G	5: 135,137,399 (GRCm38)		probably benign	Het
Mmrn1	T	C	6: 60,944,586 (GRCm38)	L9P	probably damaging	Het
Mnat1	G	A	12: 73,181,827 (GRCm38)	R155H	probably damaging	Het
Mtmr11	T	C	3: 96,167,891 (GRCm38)		probably benign	Het
Naaladl1	T	C	19: 6,115,551 (GRCm38)	L745P	probably damaging	Het
Obsl1	A	T	1: 75,490,902 (GRCm38)	D1409E	probably benign	Het
Oit3	T	C	10: 59,428,103 (GRCm38)	Y403C	probably damaging	Het
Pla2g4e	A	T	2: 120,182,713 (GRCm38)	H375Q	probably benign	Het
Prodh2	G	A	7: 30,506,452 (GRCm38)	V238M	probably damaging	Het
Rdh14	G	A	12: 10,391,231 (GRCm38)		probably null	Het
Rho	G	A	6: 115,935,230 (GRCm38)	V76I	probably benign	Het
Rock1	A	T	18: 10,080,514 (GRCm38)	M1010K	probably damaging	Het
Ros1	A	G	10: 52,162,704 (GRCm38)		probably null	Het
Sim1	A	T	10: 50,981,612 (GRCm38)	D486V	probably benign	Het
Src	A	G	2: 157,464,653 (GRCm38)	D192G	probably damaging	Het
Stox1	T	C	10: 62,659,569 (GRCm38)	N975S	probably benign	Het
Tmem145	A	G	7: 25,307,129 (GRCm38)	Y54C	probably damaging	Het
Try4	C	T	6: 41,304,971 (GRCm38)	P164S	possibly damaging	Het
Vegfc	A	T	8: 54,181,095 (GRCm38)	N270Y	probably benign	Het

Other mutations in 1110017D15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:1110017D15Rik	APN	4	41,507,178 (GRCm38)	missense	probably damaging	1.00
IGL01062:1110017D15Rik	APN	4	41,511,433 (GRCm38)	missense	probably damaging	1.00
IGL02645:1110017D15Rik	APN	4	41,517,080 (GRCm38)	missense	probably damaging	1.00
IGL03124:1110017D15Rik	APN	4	41,507,287 (GRCm38)	missense	possibly damaging	0.87
R0284:1110017D15Rik	UTSW	4	41,507,538 (GRCm38)	missense	probably damaging	1.00
R1760:1110017D15Rik	UTSW	4	41,507,330 (GRCm38)	critical splice acceptor site	probably null
R1761:1110017D15Rik	UTSW	4	41,507,223 (GRCm38)	missense	probably damaging	1.00
R2073:1110017D15Rik	UTSW	4	41,507,519 (GRCm38)	critical splice donor site	probably null
R2180:1110017D15Rik	UTSW	4	41,507,170 (GRCm38)	missense	probably benign	0.00
R4415:1110017D15Rik	UTSW	4	41,505,574 (GRCm38)	missense	possibly damaging	0.71
R4416:1110017D15Rik	UTSW	4	41,505,574 (GRCm38)	missense	possibly damaging	0.71
R4417:1110017D15Rik	UTSW	4	41,505,574 (GRCm38)	missense	possibly damaging	0.71
R4516:1110017D15Rik	UTSW	4	41,517,200 (GRCm38)	unclassified	probably benign
R5132:1110017D15Rik	UTSW	4	41,517,178 (GRCm38)	unclassified	probably benign
R6132:1110017D15Rik	UTSW	4	41,517,160 (GRCm38)	start codon destroyed	probably null	0.98
R6413:1110017D15Rik	UTSW	4	41,505,135 (GRCm38)	missense	possibly damaging	0.86
R8519:1110017D15Rik	UTSW	4	41,505,071 (GRCm38)	missense	possibly damaging	0.93
R9493:1110017D15Rik	UTSW	4	41,508,614 (GRCm38)	missense
R9594:1110017D15Rik	UTSW	4	41,505,091 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- CCAACCATTGACGTCCCATG -3'
(R):5'- TTCCCAGAGATTGTGCTGTAG -3'

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

Posted On

2015-07-07