Mutagenetix > Incidental Mutations

Incidental Mutation 'R5574:3110002H16Rik'

437139

Institutional Source

Beutler Lab

Gene Symbol

3110002H16Rik

Ensembl Gene

ENSMUSG00000024410

Gene Name

RIKEN cDNA 3110002H16 gene

Synonyms

MMRRC Submission

043129-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R5574 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

12168717-12189997 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTGTGTGTT to CTGTGTGTTGTGTGTT at 12185006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025276] [ENSMUST00000025279] [ENSMUST00000134046] [ENSMUST00000138866]

AlphaFold

Q8VC42

Predicted Effect

probably null
Transcript: ENSMUST00000025276

SMART Domains

Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410

Domain	Start	End	E-Value	Type
SCOP:d1crza1	21	169	5e-4	SMART
low complexity region	268	281	N/A	INTRINSIC
Pfam:Mic1	475	632	4.4e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025279

SMART Domains

Protein: ENSMUSP00000025279
Gene: ENSMUSG00000024413

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
Pfam:NPC1_N	22	267	1.6e-79	PFAM
transmembrane domain	269	291	N/A	INTRINSIC
transmembrane domain	353	375	N/A	INTRINSIC
Pfam:Patched	436	896	3.5e-52	PFAM
Pfam:MMPL	648	794	6.3e-8	PFAM
Pfam:Sterol-sensing	649	803	2.7e-56	PFAM
Pfam:Patched	1023	1252	2.9e-33	PFAM
low complexity region	1259	1273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127123

Predicted Effect

probably benign
Transcript: ENSMUST00000134046

SMART Domains

Protein: ENSMUSP00000118783
Gene: ENSMUSG00000024410

Domain	Start	End	E-Value	Type
low complexity region	58	71	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134756

Predicted Effect

probably benign
Transcript: ENSMUST00000138866

SMART Domains

Protein: ENSMUSP00000121414
Gene: ENSMUSG00000024410

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155431

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly damaging	Het

Other mutations in 3110002H16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:3110002H16Rik	APN	18	12179219	missense	probably benign	0.00
IGL01883:3110002H16Rik	APN	18	12178239	missense	probably benign	0.03
IGL01956:3110002H16Rik	APN	18	12189350	missense	probably damaging	0.99
IGL02828:3110002H16Rik	APN	18	12189221	missense	possibly damaging	0.52
IGL03147:3110002H16Rik	APN	18	12169229	splice site	probably benign
R0147:3110002H16Rik	UTSW	18	12189271	missense	probably damaging	0.99
R0357:3110002H16Rik	UTSW	18	12179209	missense	possibly damaging	0.87
R1108:3110002H16Rik	UTSW	18	12181623	missense	probably damaging	0.99
R1422:3110002H16Rik	UTSW	18	12181623	missense	probably damaging	0.99
R1939:3110002H16Rik	UTSW	18	12180505	missense	probably damaging	1.00
R4300:3110002H16Rik	UTSW	18	12188862	missense	probably benign	0.00
R4826:3110002H16Rik	UTSW	18	12185779	intron	probably benign
R5103:3110002H16Rik	UTSW	18	12189262	missense	probably benign
R5345:3110002H16Rik	UTSW	18	12179177	missense	probably benign
R5506:3110002H16Rik	UTSW	18	12188956	unclassified	probably benign
R5566:3110002H16Rik	UTSW	18	12180692	missense	possibly damaging	0.90
R5632:3110002H16Rik	UTSW	18	12171583	missense	possibly damaging	0.63
R6331:3110002H16Rik	UTSW	18	12180514	missense	probably damaging	0.99
R6765:3110002H16Rik	UTSW	18	12176146	missense	possibly damaging	0.82
R6978:3110002H16Rik	UTSW	18	12185747	missense	probably benign
R7310:3110002H16Rik	UTSW	18	12184915	missense	probably benign	0.13
R7734:3110002H16Rik	UTSW	18	12189263	missense	possibly damaging	0.81
R7792:3110002H16Rik	UTSW	18	12181599	missense	probably damaging	1.00
R7830:3110002H16Rik	UTSW	18	12168871	missense	probably benign	0.16
R7885:3110002H16Rik	UTSW	18	12189314	missense	probably damaging	1.00
R8047:3110002H16Rik	UTSW	18	12180529	missense	possibly damaging	0.67
R8144:3110002H16Rik	UTSW	18	12185647	critical splice acceptor site	probably null
R8157:3110002H16Rik	UTSW	18	12188633	missense	possibly damaging	0.95
R8870:3110002H16Rik	UTSW	18	12188561	missense	probably benign
X0062:3110002H16Rik	UTSW	18	12179519	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCACACACTGACGCTAGG -3'
(R):5'- GGCACGGTCAATTTCCAGATG -3'

Sequencing Primer
(F):5'- ACTGACGCTAGGACGAGATCTC -3'
(R):5'- CACGGTCAATTTCCAGATGTAAGTGG -3'

Posted On

2016-10-26