Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Cimip2b'

570129

Institutional Source

Beutler Lab

Gene Symbol

Cimip2b

Ensembl Gene

ENSMUSG00000042788

Gene Name

ciliary microtubule inner protein 2B

Synonyms

Fam166b, 4833436C18Rik

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43427019-43429134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43428022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 145 (D145G)

Ref Sequence

ENSEMBL: ENSMUSP00000058980 (fasta)

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

possibly damaging
Transcript: ENSMUST00000052829
AA Change: D145G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788
AA Change: D145G

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 damaging
Transcript: ENSMUST00000107929
AA Change: D145G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788
AA Change: D145G

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

probably damaging
Transcript: ENSMUST00000171134
AA Change: D145G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788
AA Change: D145G

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Fbxo24	G	T	5: 137,619,523 (GRCm39)	F234L	probably damaging	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Klc3	G	A	7: 19,128,814 (GRCm39)	T481M	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nrm	A	G	17: 36,175,476 (GRCm39)	H194R	probably damaging	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
Or9s18	A	C	13: 65,300,557 (GRCm39)	N173T	possibly damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Spred2	T	C	11: 19,874,958 (GRCm39)		probably null	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Stx1a	T	A	5: 135,066,042 (GRCm39)	D31E	probably benign	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	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
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

PCR Primer
(F):5'- GTGGGGATCTGTATCATCCATG -3'
(R):5'- GAACGTGCCGTGAACTAACAC -3'

Sequencing Primer
(F):5'- ATCTGTATCATCCATGGAGTAGGG -3'
(R):5'- GTGCCGTGAACTAACACATCTTC -3'

Posted On

2019-09-13