Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:1110017D15Rik'

192678

Institutional Source

Beutler Lab

Gene Symbol

1110017D15Rik

Ensembl Gene

ENSMUSG00000028441

Gene Name

RIKEN cDNA 1110017D15 gene

Synonyms

Smrp1, Cbe1

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41505009-41517333 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 41507330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q2MH31

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000123356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124019

Predicted Effect

probably null
Transcript: ENSMUST00000125303

SMART Domains

Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441

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

Predicted Effect

probably null
Transcript: ENSMUST00000125303

SMART Domains

Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441

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

0.9493

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	G	1: 105,719,444 (GRCm38)		probably benign	Het
Abca2	T	C	2: 25,443,043 (GRCm38)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,493,404 (GRCm38)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,119,767 (GRCm38)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,329,864 (GRCm38)		probably benign	Het
Anxa2	A	T	9: 69,489,767 (GRCm38)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,341,813 (GRCm38)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,242,524 (GRCm38)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,894,322 (GRCm38)	S426R	probably benign	Het
Bid	A	G	6: 120,900,248 (GRCm38)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,172,473 (GRCm38)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,326,076 (GRCm38)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,128,169 (GRCm38)	M243K	probably benign	Het
Clpb	T	A	7: 101,786,698 (GRCm38)	V578E	possibly damaging	Het
Cngb1	C	A	8: 95,299,700 (GRCm38)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,772,810 (GRCm38)	S16P	probably benign	Het
Cr1l	T	A	1: 195,114,815 (GRCm38)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm38)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,568,113 (GRCm38)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,212,029 (GRCm38)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,981,222 (GRCm38)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,546,989 (GRCm38)		noncoding transcript	Het
Dst	T	A	1: 34,228,603 (GRCm38)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,623,184 (GRCm38)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,578,469 (GRCm38)	K712*	probably null	Het
Fgr	T	C	4: 132,998,342 (GRCm38)	V354A	possibly damaging	Het
Fsip2	G	A	2: 82,984,896 (GRCm38)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,987,711 (GRCm38)	H4596L	possibly damaging	Het
Fsip2	A	G	2: 82,999,841 (GRCm38)	D6893G	possibly damaging	Het
Gm1527	G	A	3: 28,895,550 (GRCm38)		probably benign	Het
Gm5150	G	T	3: 16,006,304 (GRCm38)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,381,935 (GRCm38)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,891,527 (GRCm38)	L144P	probably damaging	Het
Gsn	T	A	2: 35,284,823 (GRCm38)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,281,899 (GRCm38)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,317,827 (GRCm38)	T194A	possibly damaging	Het
Il17rd	C	T	14: 27,091,806 (GRCm38)	Q46*	probably null	Het
Jak1	T	A	4: 101,162,929 (GRCm38)	M678L	probably benign	Het
Kif6	T	C	17: 49,615,283 (GRCm38)	V16A	probably benign	Het
Kpna3	T	C	14: 61,370,541 (GRCm38)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,174,175 (GRCm38)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,897,572 (GRCm38)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,233,695 (GRCm38)		probably benign	Het
Myh7	C	T	14: 54,972,713 (GRCm38)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,586,198 (GRCm38)	L480Q	probably benign	Het
Nek9	T	C	12: 85,310,410 (GRCm38)	E660G	probably benign	Het
Nek9	T	G	12: 85,305,590 (GRCm38)	D833A	possibly damaging	Het
Olfr186	T	C	16: 59,026,987 (GRCm38)	R307G	probably benign	Het
Olfr315	A	G	11: 58,778,369 (GRCm38)	M81V	possibly damaging	Het
Olfr419	C	T	1: 174,250,360 (GRCm38)	C189Y	probably damaging	Het
Olfr446	A	G	6: 42,927,497 (GRCm38)	I89V	possibly damaging	Het
Olfr523	G	A	7: 140,176,275 (GRCm38)	V52M	probably damaging	Het
Olfr808	T	A	10: 129,767,548 (GRCm38)	D17E	probably benign	Het
Olfr831-ps1	T	A	9: 18,932,495 (GRCm38)		probably benign	Het
Otud3	G	T	4: 138,895,781 (GRCm38)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,311,841 (GRCm38)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,170,046 (GRCm38)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,314,066 (GRCm38)		probably benign	Het
Plxnd1	A	T	6: 115,967,779 (GRCm38)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,562,225 (GRCm38)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,300,070 (GRCm38)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,549,827 (GRCm38)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,937,510 (GRCm38)	D133N	probably damaging	Het
Rsbn1	T	A	3: 103,960,031 (GRCm38)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,728,408 (GRCm38)	D530A	probably benign	Het
Rybp	G	T	6: 100,232,263 (GRCm38)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,106 (GRCm38)	C689G	probably damaging	Het
Senp6	T	A	9: 80,118,629 (GRCm38)	V314E	probably benign	Het
Setd1a	T	A	7: 127,785,890 (GRCm38)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,777,166 (GRCm38)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,996,128 (GRCm38)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,355,319 (GRCm38)		probably null	Het
Slc6a2	C	T	8: 92,961,218 (GRCm38)		probably benign	Het
Snw1	A	T	12: 87,464,689 (GRCm38)	F64Y	probably benign	Het
Spata9	A	C	13: 75,998,524 (GRCm38)	I172L	probably benign	Het
Sphkap	T	C	1: 83,277,544 (GRCm38)	H828R	probably benign	Het
Tmem94	A	T	11: 115,796,754 (GRCm38)	K1146N	probably damaging	Het
Trdn	A	G	10: 33,233,887 (GRCm38)	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,416,948 (GRCm38)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,993,035 (GRCm38)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,189,471 (GRCm38)		probably null	Het
Ush2a	G	A	1: 188,910,983 (GRCm38)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,888,348 (GRCm38)	S547P	probably benign	Het
Vav3	T	C	3: 109,341,127 (GRCm38)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,025,469 (GRCm38)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 86,148,811 (GRCm38)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,619 (GRCm38)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,768,471 (GRCm38)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,382,616 (GRCm38)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,545,421 (GRCm38)		probably null	Het
Zfp760	A	T	17: 21,722,330 (GRCm38)	D162V	probably damaging	Het
Znfx1	T	A	2: 167,039,866 (GRCm38)	M1068L	probably damaging	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
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
R4414:1110017D15Rik	UTSW	4	41,505,574 (GRCm38)	missense	possibly damaging	0.71
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'- AGTAACCTTTGTGCTGGTTCTCTGC -3'
(R):5'- TTCGAGGAATGCCGTTGGAATATCC -3'

Sequencing Primer
(F):5'- TGCGAACCTTACAGTCGG -3'
(R):5'- CGTTGGAATATCCTCCTAAGCAGG -3'

Posted On

2014-05-23