Mutagenetix > Incidental Mutations

Incidental Mutation 'R8054:Clip4'

619291

Institutional Source

Beutler Lab

Gene Symbol

Clip4

Ensembl Gene

ENSMUSG00000024059

Gene Name

CAP-GLY domain containing linker protein family, member 4

Synonyms

1700024K14Rik, Rsnl2, 1700074B05Rik, 4833417L20Rik, 5830409B12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71768473-71864273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71834273 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 541 (Y541N)

Ref Sequence

ENSEMBL: ENSMUSP00000024854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024854] [ENSMUST00000229304] [ENSMUST00000229874] [ENSMUST00000229952] [ENSMUST00000230305] [ENSMUST00000230333] [ENSMUST00000230747] [ENSMUST00000230749] [ENSMUST00000231105]

PDB Structure

Solution structure of the 1st CAP-Gly domain in mouse 1700024K14Rik hypothetical protein [SOLUTION NMR]
Solution structure of the 3rd CAP-Gly domain in mouse 1700024K14Rik hypothetical protein [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024854
AA Change: Y541N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: Y541N

Domain	Start	End	E-Value	Type
ANK	106	144	4.58e2	SMART
ANK	149	180	3.26e0	SMART
ANK	186	215	3.26e0	SMART
CAP_GLY	285	350	6.63e-34	SMART
low complexity region	358	371	N/A	INTRINSIC
low complexity region	389	403	N/A	INTRINSIC
low complexity region	423	432	N/A	INTRINSIC
low complexity region	440	461	N/A	INTRINSIC
low complexity region	469	478	N/A	INTRINSIC
CAP_GLY	486	551	5.52e-31	SMART
low complexity region	575	586	N/A	INTRINSIC
low complexity region	598	612	N/A	INTRINSIC
CAP_GLY	624	690	5.65e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229304

Predicted Effect

probably damaging
Transcript: ENSMUST00000229874
AA Change: Y541N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229952
AA Change: Y494N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230305
AA Change: Y541N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230333
AA Change: Y541N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000230747

Predicted Effect

probably benign
Transcript: ENSMUST00000230749

Predicted Effect

probably benign
Transcript: ENSMUST00000231105

Predicted Effect

probably benign
Transcript: ENSMUST00000231131

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,824,272	N399S	probably benign	Het
Akap9	T	C	5: 4,038,707		probably null	Het
Ankrd17	A	G	5: 90,291,055	I483T	probably benign	Het
Arl13b	T	C	16: 62,806,597	D247G	probably benign	Het
Brca2	A	G	5: 150,536,504	I415V	probably benign	Het
Brpf3	C	A	17: 28,836,597	S1173R	probably damaging	Het
Ccar1	A	G	10: 62,747,436	L966P	unknown	Het
Ccdc129	A	T	6: 55,976,439	K913N	probably damaging	Het
Cfap61	A	G	2: 145,973,518	N249S	probably damaging	Het
Csn2	C	T	5: 87,698,027		probably null	Het
Cyp2c23	T	G	19: 44,007,116	E404A	probably damaging	Het
Cyp2e1	A	G	7: 140,770,958	E281G	possibly damaging	Het
Cyp2r1	T	A	7: 114,552,084		probably null	Het
D430041D05Rik	T	A	2: 104,155,045	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,632,750	W236R	probably damaging	Het
Dcp2	T	G	18: 44,405,707	N251K	probably benign	Het
Disp1	A	T	1: 183,088,248	Y869*	probably null	Het
Dnajc8	T	A	4: 132,544,757		probably benign	Het
Ehhadh	A	G	16: 21,773,493		probably null	Het
Eml3	A	T	19: 8,939,050	T670S	possibly damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,346,018	D1530E	possibly damaging	Het
Gm11639	A	G	11: 104,730,400	N822D	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Hsd3b3	A	T	3: 98,742,015	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,058,678	R791G	possibly damaging	Het
Jade2	T	C	11: 51,818,614	R523G	probably benign	Het
Kmt2d	A	T	15: 98,843,925	D4451E	unknown	Het
Lax1	T	C	1: 133,683,607	T76A	probably benign	Het
Map4k1	A	G	7: 28,989,756		probably benign	Het
Mcu	G	A	10: 59,454,995	T121M	probably damaging	Het
Mepce	T	A	5: 137,784,742	K441*	probably null	Het
Mettl21e	C	A	1: 44,206,655	V144F	probably damaging	Het
Muc6	T	A	7: 141,645,481	S1049C	probably damaging	Het
Myh14	C	T	7: 44,625,127	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,574,317	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,867,772	S203G	probably benign	Het
Npas2	A	G	1: 39,287,571	T46A	possibly damaging	Het
Nup133	T	C	8: 123,949,217		probably benign	Het
Olfr11	A	T	13: 21,638,949	D191E	probably benign	Het
Olfr1375	T	A	11: 51,048,263	I52N	probably benign	Het
Olfr213	A	G	6: 116,540,999	H182R	probably damaging	Het
Olfr44	C	A	9: 39,484,737	C172F	probably damaging	Het
Olfr998	A	T	2: 85,590,840	Q100L	probably damaging	Het
Oplah	C	T	15: 76,306,257	R102H	probably benign	Het
Osgep	C	T	14: 50,924,671		probably benign	Het
Pam	A	T	1: 97,840,389	D705E	probably damaging	Het
Papd5	T	A	8: 88,247,558	I294N	probably damaging	Het
Pkd1l3	C	G	8: 109,646,376	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,365,316	F407S	probably damaging	Het
Pygl	A	G	12: 70,227,339		probably null	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,248,890	N37S	probably damaging	Het
Sema6a	T	A	18: 47,291,905	D213V	probably damaging	Het
Skint11	A	T	4: 114,244,609	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,982,229	H240L	probably benign	Het
Slc12a2	C	T	18: 57,921,872	Q862*	probably null	Het
Smox	A	G	2: 131,522,180	S468G	probably benign	Het
Spc25	A	G	2: 69,204,913	S50P	probably damaging	Het
Spert	A	G	14: 75,583,899	Y129H	probably benign	Het
Srrm1	A	T	4: 135,325,015	S683T	unknown	Het
Syne1	T	C	10: 5,270,970	E3103G	probably benign	Het
Tenm4	C	A	7: 96,729,346		probably benign	Het
Tmem123	T	C	9: 7,791,063	S122P	possibly damaging	Het
Trav18	A	T	14: 53,831,115	K4I	probably benign	Het
Triml1	T	C	8: 43,130,383	S394G	probably damaging	Het
Ubr4	A	T	4: 139,468,102	S1212C	unknown	Het
Usp34	G	A	11: 23,361,295	R442Q		Het
Usp43	G	A	11: 67,891,458	P378L	probably damaging	Het
Vmn1r212	A	G	13: 22,883,765	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,011,740	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,316,039	P347S	probably damaging	Het
Zfp106	A	T	2: 120,524,519	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,641,969	S13P	probably benign	Het
Zfp608	C	A	18: 54,899,546	A441S	probably benign	Het
Zufsp	T	C	10: 33,940,252	D232G	probably damaging	Het

Other mutations in Clip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Clip4	APN	17	71849942	missense	probably damaging	1.00
IGL01011:Clip4	APN	17	71849939	missense	probably benign	0.02
IGL01086:Clip4	APN	17	71824794	missense	probably benign	0.00
IGL01712:Clip4	APN	17	71799041	missense	probably damaging	1.00
IGL01833:Clip4	APN	17	71827790	unclassified	probably benign
IGL02150:Clip4	APN	17	71799076	missense	probably damaging	1.00
IGL02378:Clip4	APN	17	71837726	missense	possibly damaging	0.94
IGL02597:Clip4	APN	17	71849970	splice site	probably benign
IGL02676:Clip4	APN	17	71828621	missense	probably damaging	1.00
PIT4243001:Clip4	UTSW	17	71806728	missense	probably damaging	0.98
R0525:Clip4	UTSW	17	71799098	critical splice donor site	probably null
R0737:Clip4	UTSW	17	71837699	nonsense	probably null
R1791:Clip4	UTSW	17	71801942	splice site	probably benign
R1908:Clip4	UTSW	17	71837749	missense	probably damaging	1.00
R2290:Clip4	UTSW	17	71810953	missense	possibly damaging	0.96
R3701:Clip4	UTSW	17	71799008	missense	probably damaging	0.96
R4001:Clip4	UTSW	17	71799076	missense	probably damaging	1.00
R4013:Clip4	UTSW	17	71856546	nonsense	probably null
R4589:Clip4	UTSW	17	71810867	nonsense	probably null
R4837:Clip4	UTSW	17	71834222	missense	probably damaging	1.00
R5174:Clip4	UTSW	17	71810962	missense	probably damaging	1.00
R5239:Clip4	UTSW	17	71799077	missense	probably damaging	1.00
R5298:Clip4	UTSW	17	71834225	missense	probably damaging	1.00
R5535:Clip4	UTSW	17	71831262	missense	probably benign
R5667:Clip4	UTSW	17	71789883	start codon destroyed	probably damaging	1.00
R5671:Clip4	UTSW	17	71789883	start codon destroyed	probably damaging	1.00
R5730:Clip4	UTSW	17	71810959	missense	probably damaging	1.00
R5768:Clip4	UTSW	17	71806499	splice site	probably null
R5913:Clip4	UTSW	17	71824765	missense	probably benign	0.00
R5974:Clip4	UTSW	17	71831247	missense	probably damaging	1.00
R5996:Clip4	UTSW	17	71856310	missense	probably damaging	0.99
R6176:Clip4	UTSW	17	71806633	nonsense	probably null
R6371:Clip4	UTSW	17	71856464	missense	probably damaging	1.00
R6386:Clip4	UTSW	17	71834194	nonsense	probably null
R7296:Clip4	UTSW	17	71790001	missense	probably damaging	0.99
R7546:Clip4	UTSW	17	71828702	missense	possibly damaging	0.85
R7548:Clip4	UTSW	17	71789968	missense	probably benign
R7616:Clip4	UTSW	17	71834273	missense	probably benign	0.00
R8056:Clip4	UTSW	17	71803592	missense	probably damaging	1.00
R8486:Clip4	UTSW	17	71863844	utr 3 prime	probably benign
Z1177:Clip4	UTSW	17	71799097	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTCATTTGTGAAAACGCCG -3'
(R):5'- CAGCAAGGCAAATTTAGCTTCCC -3'

Sequencing Primer
(F):5'- TTTGTGAAAACGCCGAGCCATC -3'
(R):5'- GGCAAATTTAGCTTCCCATGAGC -3'

Posted On

2020-01-23