Mutagenetix > Incidental Mutation

Incidental Mutation 'R8418:Cimip2b'

653029

Institutional Source

Beutler Lab

Gene Symbol

Cimip2b

Ensembl Gene

ENSMUSG00000042788

Gene Name

ciliary microtubule inner protein 2B

Synonyms

Fam166b, 4833436C18Rik

MMRRC Submission

067897-MU

Accession Numbers

Essential gene?

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

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43427019-43429134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43427204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 76 (L76P)

Gene Model

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

silent
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

silent
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

silent
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

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

probably benign
Transcript: ENSMUST00000149676

Predicted Effect

unknown
Transcript: ENSMUST00000155080
AA Change: L76P

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: 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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,021,477 (GRCm39)	H449R	probably benign	Het
Arfgef2	T	C	2: 166,698,468 (GRCm39)	V646A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc62	C	T	5: 124,084,455 (GRCm39)	R279*	probably null	Het
Col6a5	G	T	9: 105,755,821 (GRCm39)	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,276,315 (GRCm39)	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,260,398 (GRCm39)	N82D	possibly damaging	Het
Dcaf17	T	A	2: 70,918,717 (GRCm39)	D430E	probably damaging	Het
Dcst2	T	C	3: 89,278,901 (GRCm39)	V546A	probably benign	Het
Dennd1a	T	C	2: 37,748,403 (GRCm39)	T359A	probably benign	Het
Dgkb	C	A	12: 38,380,016 (GRCm39)	H591N	probably damaging	Het
Dnah17	G	A	11: 117,994,284 (GRCm39)	S1047F	probably benign	Het
Dock2	A	G	11: 34,609,795 (GRCm39)	I215T	probably benign	Het
Efcab12	A	G	6: 115,799,076 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,415,378 (GRCm39)	R165C		Het
Gabrr1	C	T	4: 33,162,615 (GRCm39)	R394*	probably null	Het
Garnl3	G	T	2: 32,942,158 (GRCm39)	Q153K	possibly damaging	Het
Gars1	A	G	6: 55,042,446 (GRCm39)	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,309,466 (GRCm39)	E192D	probably benign	Het
Gm28360	A	T	1: 117,781,357 (GRCm39)	H116L	probably benign	Het
Gm9602	T	A	14: 15,935,348 (GRCm39)		probably benign	Het
Gp1bb	T	A	16: 18,440,103 (GRCm39)	H5L	unknown	Het
Grik3	A	G	4: 125,579,835 (GRCm39)	K527E	possibly damaging	Het
Hhip	T	C	8: 80,771,714 (GRCm39)	M199V	probably damaging	Het
Irgm1	A	G	11: 48,757,166 (GRCm39)	V231A	probably damaging	Het
Itgal	A	T	7: 126,929,454 (GRCm39)	I1124F	probably benign	Het
Kash5	A	G	7: 44,843,501 (GRCm39)	L241P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Miga1	T	G	3: 151,990,954 (GRCm39)	Y433S	probably damaging	Het
Muc16	A	T	9: 18,430,926 (GRCm39)	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,706,662 (GRCm39)	V230G	possibly damaging	Het
Or52ab2	A	G	7: 102,970,278 (GRCm39)	Y220C		Het
Ptpn2	G	A	18: 67,814,592 (GRCm39)	T139M	probably damaging	Het
Pum2	T	A	12: 8,760,245 (GRCm39)	D145E	possibly damaging	Het
Radil	T	C	5: 142,480,676 (GRCm39)	E593G	probably benign	Het
Rdh14	T	C	12: 10,444,580 (GRCm39)	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Serpina6	T	C	12: 103,613,187 (GRCm39)	Y371C	probably damaging	Het
Snx13	T	A	12: 35,148,233 (GRCm39)	I254N	probably damaging	Het
Tacc1	T	C	8: 25,731,532 (GRCm39)	K7E	probably damaging	Het
Thoc2l	C	A	5: 104,667,724 (GRCm39)	Q749K	possibly damaging	Het
Timeless	A	C	10: 128,086,605 (GRCm39)	N1048T	probably benign	Het
Tll2	C	A	19: 41,081,276 (GRCm39)	E732D	probably damaging	Het
Tmem171	A	G	13: 98,828,740 (GRCm39)	S137P	probably damaging	Het
Ttll3	A	T	6: 113,371,734 (GRCm39)	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,244,939 (GRCm39)	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,258,583 (GRCm39)	L210*	probably null	Het
Vmn2r60	A	G	7: 41,844,850 (GRCm39)	I738V	probably damaging	Het
Zfp977	T	A	7: 42,229,410 (GRCm39)	M372L	probably benign	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
FR4340:Cimip2b	UTSW	4	43,427,384 (GRCm39)	frame shift	probably null
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
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

PCR Primer
(F):5'- TGCTGTAAATAGTCTGGTCGTCAG -3'
(R):5'- AACTCTGAGGCAGTTCAGTGG -3'

Sequencing Primer
(F):5'- CTGGTCGTCAGAGTAGGGAG -3'
(R):5'- GGGAGTTGGGAGCAGATTTTAAAG -3'

Posted On

2020-10-20