Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4340:Cimip2b'

511106

Institutional Source

Beutler Lab

Gene Symbol

Cimip2b

Ensembl Gene

ENSMUSG00000042788

Gene Name

ciliary microtubule inner protein 2B

Synonyms

Fam166b, 4833436C18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

FR4340 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

43427019-43429134 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGAG to CAG at 43427384 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000171134] [ENSMUST00000149676] [ENSMUST00000131668] [ENSMUST00000173682]

AlphaFold

A2AIP0

Predicted Effect

probably benign
Transcript: ENSMUST00000035645

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC
SH3	1457	1512	7.4e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000052829

SMART Domains

Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	47	2.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098106

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC
SH3	1457	1512	7.4e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107928

SMART Domains

Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	1.3e-20	PFAM
Pfam:DUF2475	212	251	6.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107929

SMART Domains

Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	1.5e-20	PFAM
Pfam:DUF2475	232	271	7.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125393

Predicted Effect

probably benign
Transcript: ENSMUST00000155080

Predicted Effect

probably benign
Transcript: ENSMUST00000171134

SMART Domains

Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	7.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149676

Predicted Effect

probably benign
Transcript: ENSMUST00000131668

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154754

Predicted Effect

probably benign
Transcript: ENSMUST00000173682

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	685	703	N/A	INTRINSIC
low complexity region	733	740	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
4930578G10Rik	G	T	4: 42,761,098 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,470,549 (GRCm39)		probably benign	Homo
Arpc1b	CC	CCTGGTC	5: 145,063,602 (GRCm39)		probably null	Het
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Blm	ACCT	ACCTGCCT	7: 80,113,515 (GRCm39)		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,658 (GRCm39)		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,655 (GRCm39)		probably benign	Het
Bltp1	TATTATTAT	TATTATTATTATTATCATTATTAT	3: 37,104,901 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 85,365,352 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGCGG	X: 7,486,306 (GRCm39)		probably benign	Het
Calhm1	CTCTGTGGCTGTGGCTGTGGCTGTG	CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG	19: 47,129,690 (GRCm39)		probably benign	Het
Casz1	ACCACAGCCACAGCCACAGCCAC	ACCACAGCCACAGCCAC	4: 149,036,759 (GRCm39)		probably benign	Homo
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cd80	GAA	GAAAAA	16: 38,306,678 (GRCm39)		probably benign	Homo
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Crygc	A	T	1: 65,110,822 (GRCm39)	F155Y	probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,779 (GRCm39)		probably benign	Het
Cyp2d11	T	TGGGA	15: 82,274,223 (GRCm39)		probably null	Homo
Dbr1	AGG	AGGAGGCGG	9: 99,465,754 (GRCm39)		probably benign	Het
Dennd10	CT	CTTTT	19: 60,803,059 (GRCm39)		probably benign	Homo
Dennd2b	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,156,128 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dnah8	ACACTGCC	AC	17: 30,854,437 (GRCm39)		probably benign	Het
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
Frem3	CT	CTTTT	8: 81,341,870 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
G530012D18Rik	CACACAGAGAGAGAGAGAGAGAGAGA	CA	1: 85,504,873 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm14393	T	C	2: 174,903,427 (GRCm39)	E160G	possibly damaging	Het
Gm16519	A	AGAAC	17: 71,236,333 (GRCm39)		probably null	Homo
Gm4340	GCAG	GCAACAG	10: 104,031,959 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,031,936 (GRCm39)		probably null	Het
Gpatch11	AGGAAG	AGGAAGGGGAAG	17: 79,149,603 (GRCm39)		probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,314,007 (GRCm39)		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,314,009 (GRCm39)		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,839,019 (GRCm39)		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,788 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,794 (GRCm39)		probably benign	Het
Krt10	CCTCCT	CCTCCTTCTCCT	11: 99,280,100 (GRCm39)		probably benign	Het
Krt10	CAC	CACGAC	11: 99,277,028 (GRCm39)		probably benign	Het
Krt10	ACCG	ACCGCCG	11: 99,277,029 (GRCm39)		probably benign	Homo
Las1l	TCCTC	TCCTCTACCTC	X: 94,984,228 (GRCm39)		probably benign	Het
Lce1a1	C	T	3: 92,554,151 (GRCm39)	G108S	unknown	Het
Lkaaear1	CCAGCTCCAG	CCAGCTCCAGCTGCAGCTCCAG	2: 181,339,387 (GRCm39)		probably benign	Het
Lrit3	CTG	CTGTTG	3: 129,582,457 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,452 (GRCm39)		probably benign	Het
Mapk7	TGCTGGCGCTGGTGCTGGCGCTGG	TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG	11: 61,381,032 (GRCm39)		probably benign	Het
Mast4	GCA	GCAGTGTCA	13: 102,872,825 (GRCm39)		probably benign	Homo
Mast4	TTTT	TTTTATTT	13: 102,871,365 (GRCm39)		probably null	Het
Med12l	AGC	AGCCGC	3: 59,183,406 (GRCm39)		probably benign	Het
Mfsd5	G	A	15: 102,189,596 (GRCm39)	V323I	probably benign	Het
Nacad	GTC	GTCAGGATC	11: 6,549,761 (GRCm39)		probably benign	Het
Naip1	A	C	13: 100,559,584 (GRCm39)	M1140R	probably benign	Het
Nbea	TTTA	T	3: 55,916,633 (GRCm39)		probably benign	Homo
Nefh	CTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,040 (GRCm39)		probably benign	Homo
Nefh	ACTTGGCCTCACCTGGGG	ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG	11: 4,891,033 (GRCm39)		probably benign	Het
Nefh	GCCTCACCTGGGGACTTGGCCTC	GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,038 (GRCm39)		probably benign	Homo
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Nutf2	G	T	8: 106,603,202 (GRCm39)	D78Y	probably damaging	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5e1	AT	ATGATATT	7: 108,354,161 (GRCm39)		probably benign	Homo
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Pdik1l	ACCAC	ACCACCCCCAC	4: 134,006,823 (GRCm39)		probably benign	Het
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Pik3c2g	AG	AGAGGG	6: 139,612,654 (GRCm39)		probably null	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Prag1	C	CAGT	8: 36,571,040 (GRCm39)		probably benign	Homo
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Serpina3i	CGG	CGGTGG	12: 104,231,423 (GRCm39)		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,646,815 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,784 (GRCm39)		probably benign	Het
Sp140l1	A	C	1: 85,087,072 (GRCm39)	N6K	probably damaging	Het
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GCTGCTGCTGCTG	GCTGCTGCTGCTGCTG	Y: 2,662,824 (GRCm39)		probably benign	Het
Tbr1	A	C	2: 61,636,691 (GRCm39)		probably benign	Het
Tdpoz2	T	TCC	3: 93,558,922 (GRCm39)		probably null	Homo
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tgoln1	AAG	AAGCCTCAG	6: 72,593,334 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Het
Tob1	CA	CAGAA	11: 94,105,303 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,280 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,286 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Triobp	TCGG	TCGGCGG	15: 78,877,590 (GRCm39)		probably benign	Homo
Tsbp1	GC	GCAAC	17: 34,679,051 (GRCm39)		probably benign	Het
Tsbp1	CAG	CAGTAG	17: 34,679,034 (GRCm39)		probably null	Het
Tsbp1	GCA	GCATCA	17: 34,679,042 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGGGG	6: 115,537,027 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,537,030 (GRCm39)		probably benign	Homo
Ubtf	TCC	TCCCCC	11: 102,197,776 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,561,032 (GRCm39)		probably benign	Homo
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp384	AAGCCCAGGCCCAGGCCCAGGCCCA	AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA	6: 125,013,426 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp598	CCACAGGC	CC	17: 24,898,346 (GRCm39)		probably benign	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,899,757 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,273 (GRCm39)		probably benign	Het
Zfp933	GCTT	GCTTTTCTT	4: 147,910,186 (GRCm39)		probably null	Homo
Zfp936	G	A	7: 42,838,913 (GRCm39)	G127R	possibly damaging	Het

Other mutations in Cimip2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Cimip2b	APN	4	43,428,158 (GRCm39)	missense	possibly damaging	0.49
IGL00330:Cimip2b	APN	4	43,428,158 (GRCm39)	missense	possibly damaging	0.49
IGL00331:Cimip2b	APN	4	43,428,158 (GRCm39)	missense	possibly damaging	0.49
IGL00332:Cimip2b	APN	4	43,428,158 (GRCm39)	missense	possibly damaging	0.49
IGL00335:Cimip2b	APN	4	43,428,158 (GRCm39)	missense	possibly damaging	0.49
IGL00971:Cimip2b	APN	4	43,428,377 (GRCm39)	missense	probably damaging	0.98
IGL01619:Cimip2b	APN	4	43,427,814 (GRCm39)	missense	possibly damaging	0.60
FR4342:Cimip2b	UTSW	4	43,427,384 (GRCm39)	frame shift	probably null
R0589:Cimip2b	UTSW	4	43,427,355 (GRCm39)	unclassified	probably benign
R1125:Cimip2b	UTSW	4	43,427,550 (GRCm39)	missense	probably damaging	0.99
R1937:Cimip2b	UTSW	4	43,427,586 (GRCm39)	missense	probably damaging	0.96
R4599:Cimip2b	UTSW	4	43,427,574 (GRCm39)	missense	possibly damaging	0.90
R4937:Cimip2b	UTSW	4	43,427,514 (GRCm39)	missense	possibly damaging	0.72
R5337:Cimip2b	UTSW	4	43,427,687 (GRCm39)	splice site	probably null
R7345:Cimip2b	UTSW	4	43,428,022 (GRCm39)	missense	possibly damaging	0.92
R7653:Cimip2b	UTSW	4	43,427,273 (GRCm39)	critical splice acceptor site	probably null
R8418:Cimip2b	UTSW	4	43,427,204 (GRCm39)	missense	unknown
R9594:Cimip2b	UTSW	4	43,427,329 (GRCm39)	missense	unknown
R9665:Cimip2b	UTSW	4	43,427,554 (GRCm39)	nonsense	probably null
Z1176:Cimip2b	UTSW	4	43,427,172 (GRCm39)	missense
Z1176:Cimip2b	UTSW	4	43,427,171 (GRCm39)	missense

Predicted Primers

Posted On

2018-04-05