Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Clip3'

565798

Institutional Source

Beutler Lab

Gene Symbol

Clip3

Ensembl Gene

ENSMUSG00000013921

Gene Name

CAP-GLY domain containing linker protein 3

Synonyms

1500005P14Rik

MMRRC Submission

045361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29991153-30007792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30005237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 524 (S524P)

Ref Sequence

ENSEMBL: ENSMUSP00000014065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014065] [ENSMUST00000060834] [ENSMUST00000136887] [ENSMUST00000137550]

AlphaFold

B9EHT4

PDB Structure

Solution structure of the 2nd CAP-Gly domain in mouse CLIP170-related 59kDa protein CLIPR-59 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000014065
AA Change: S524P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921
AA Change: S524P

Domain	Start	End	E-Value	Type
low complexity region	6	33	N/A	INTRINSIC
ANK	117	155	1.04e2	SMART
ANK	160	191	3.74e0	SMART
ANK	197	226	3.54e-1	SMART
CAP_GLY	296	361	2.16e-33	SMART
low complexity region	367	379	N/A	INTRINSIC
low complexity region	387	408	N/A	INTRINSIC
CAP_GLY	418	483	1.4e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060834

SMART Domains

Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	23	224	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136887

SMART Domains

Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	3	210	2.1e-16	PFAM
Pfam:2OG-FeII_Oxy	82	213	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137550

Meta Mutation Damage Score

0.1198

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired phrenic nerve-elicited muscle contraction, defects in diaphragm innervation, altered neuromuscular junction stability, abnormal motor innervation of other muscles, and complete neonatal lethality due to respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,700,504 (GRCm39)	V278A	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abce1	C	A	8: 80,411,885 (GRCm39)	G592*	probably null	Het
Acad10	A	C	5: 121,787,538 (GRCm39)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,253,563 (GRCm39)	I672V	not run	Het
Adgrb1	A	T	15: 74,452,512 (GRCm39)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,768,955 (GRCm39)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,537,469 (GRCm39)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,652 (GRCm39)	T33I	probably damaging	Het
Bicra	T	C	7: 15,706,425 (GRCm39)	T1339A	probably damaging	Het
Bltp2	A	G	11: 78,165,654 (GRCm39)	Q1346R	probably damaging	Het
Cacna1s	A	G	1: 136,001,446 (GRCm39)	Y299C	probably damaging	Het
Clip1	A	C	5: 123,751,857 (GRCm39)	C641W		Het
Cnpy4	A	T	5: 138,191,144 (GRCm39)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,466,339 (GRCm39)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,903,818 (GRCm39)	N280I	probably benign	Het
Diaph3	A	G	14: 87,104,020 (GRCm39)	F788S	probably damaging	Het
Drc7	A	G	8: 95,798,207 (GRCm39)	N484S	probably damaging	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fat4	A	T	3: 38,943,842 (GRCm39)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,649,673 (GRCm39)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,812,061 (GRCm39)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm39)		probably null	Het
Ipo8	T	A	6: 148,725,979 (GRCm39)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,100,693 (GRCm39)	M1T	probably null	Het
Klrb1c	A	T	6: 128,761,220 (GRCm39)	C136S	probably benign	Het
Morn2	A	G	17: 80,604,688 (GRCm39)	E48G	probably damaging	Het
Myh1	A	T	11: 67,092,670 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,686,393 (GRCm39)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,765,741 (GRCm39)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,343,352 (GRCm39)	R76*	probably null	Het
Or1e1f	T	C	11: 73,855,634 (GRCm39)	S67P	probably damaging	Het
Or52n1	G	T	7: 104,382,800 (GRCm39)	T257K	probably damaging	Het
Or5h22	A	T	16: 58,894,555 (GRCm39)	M296K	probably benign	Het
Or7e176	A	C	9: 20,171,555 (GRCm39)	I140L	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Papolg	A	G	11: 23,817,394 (GRCm39)	V601A	not run	Het
Pde4dip	T	C	3: 97,666,198 (GRCm39)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,017,741 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,366,676 (GRCm39)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,546,401 (GRCm39)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,327,191 (GRCm39)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,231,471 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,535,628 (GRCm39)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm39)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,610,261 (GRCm39)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,263,342 (GRCm39)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,354,469 (GRCm39)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,449,892 (GRCm39)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm39)	G240R	probably damaging	Het
Scn10a	A	G	9: 119,493,845 (GRCm39)		probably null	Het
Serpina16	A	C	12: 103,638,691 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,039,831 (GRCm39)	M290L		Het
Slc6a4	A	T	11: 76,901,522 (GRCm39)	M86L	probably benign	Het
Spag7	A	T	11: 70,556,139 (GRCm39)	V46E	probably benign	Het
Spata31h1	G	A	10: 82,127,131 (GRCm39)	R1960W	possibly damaging	Het
Sptlc1	T	C	13: 53,498,914 (GRCm39)	I271V	probably benign	Het
Stk17b	A	C	1: 53,796,674 (GRCm39)	H364Q	probably benign	Het
Strc	T	C	2: 121,209,933 (GRCm39)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,705,026 (GRCm39)	D148V	probably damaging	Het
Tirap	G	A	9: 35,100,225 (GRCm39)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem51	T	A	4: 141,759,094 (GRCm39)	D218V	probably damaging	Het
Trim40	A	T	17: 37,193,554 (GRCm39)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,039,062 (GRCm39)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,002,914 (GRCm39)	L108P	probably damaging	Het
Washc2	C	A	6: 116,204,379 (GRCm39)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,502,137 (GRCm39)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm39)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,273,493 (GRCm39)	A724G	unknown	Het

Other mutations in Clip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Clip3	APN	7	29,996,494 (GRCm39)	splice site	probably benign
IGL01642:Clip3	APN	7	29,998,287 (GRCm39)	missense	probably benign	0.11
IGL03004:Clip3	APN	7	29,991,789 (GRCm39)	missense	probably damaging	1.00
R0152:Clip3	UTSW	7	30,002,857 (GRCm39)	missense	probably benign	0.15
R1474:Clip3	UTSW	7	29,998,307 (GRCm39)	missense	possibly damaging	0.57
R1778:Clip3	UTSW	7	29,996,861 (GRCm39)	missense	probably damaging	1.00
R5024:Clip3	UTSW	7	29,991,644 (GRCm39)	unclassified	probably benign
R5561:Clip3	UTSW	7	29,998,274 (GRCm39)	missense	possibly damaging	0.93
R5908:Clip3	UTSW	7	29,996,298 (GRCm39)	missense	probably damaging	0.99
R5912:Clip3	UTSW	7	29,998,295 (GRCm39)	missense	probably benign	0.22
R5941:Clip3	UTSW	7	29,991,731 (GRCm39)	missense	probably damaging	1.00
R7471:Clip3	UTSW	7	30,001,377 (GRCm39)	missense	possibly damaging	0.89
R7516:Clip3	UTSW	7	29,998,268 (GRCm39)	missense	possibly damaging	0.90
R9259:Clip3	UTSW	7	29,998,375 (GRCm39)	missense	probably benign	0.31
Z1176:Clip3	UTSW	7	29,998,263 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGGGTCTGGAGACATG -3'
(R):5'- CAAGAATGGCATACTCTGTCTGTC -3'

Sequencing Primer
(F):5'- TCTGGAGACATGGATAGATATGACTG -3'
(R):5'- AGGCATGGAATCCTTGATCC -3'

Posted On

2019-06-26