Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Clip4'

672527

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: 0.142) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71768473-71864273 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 71800805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 94 (K94*)

Ref Sequence

ENSEMBL: ENSMUSP00000024854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024854] [ENSMUST00000229288] [ENSMUST00000229304] [ENSMUST00000229874] [ENSMUST00000229952] [ENSMUST00000230305] [ENSMUST00000230333] [ENSMUST00000230427] [ENSMUST00000230747] [ENSMUST00000230749] [ENSMUST00000231105]

AlphaFold

Q8CI96

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

probably null
Transcript: ENSMUST00000024854
AA Change: K94*

SMART Domains

Protein: ENSMUSP00000024854
Gene: ENSMUSG00000024059
AA Change: K94*

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 null
Transcript: ENSMUST00000229288
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000229304
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000229874
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000229952
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000230305
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000230333
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000230427
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000230747
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000230749
AA Change: K94*

Predicted Effect

probably null
Transcript: ENSMUST00000231105
AA Change: K94*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	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
R8054:Clip4	UTSW	17	71834273	missense	possibly damaging	0.68
R8056:Clip4	UTSW	17	71803592	missense	probably damaging	1.00
R8486:Clip4	UTSW	17	71863844	utr 3 prime	probably benign
R8697:Clip4	UTSW	17	71856275	missense	possibly damaging	0.80
R8929:Clip4	UTSW	17	71831208	missense	probably damaging	1.00
R8942:Clip4	UTSW	17	71863773	missense	probably benign	0.03
R8985:Clip4	UTSW	17	71806532	missense	probably damaging	1.00
R9100:Clip4	UTSW	17	71810889	missense	probably damaging	1.00
R9198:Clip4	UTSW	17	71810889	missense	probably damaging	1.00
R9200:Clip4	UTSW	17	71810889	missense	probably damaging	1.00
R9201:Clip4	UTSW	17	71810889	missense	probably damaging	1.00
R9202:Clip4	UTSW	17	71810889	missense	probably damaging	1.00
R9640:Clip4	UTSW	17	71856269	missense	possibly damaging	0.86
R9753:Clip4	UTSW	17	71799073	missense	probably benign	0.31
Z1177:Clip4	UTSW	17	71799097	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGAATTTCCTGACCAGTGTTG -3'
(R):5'- CCTCACCTACTTGGCTGATG -3'

Sequencing Primer
(F):5'- TGTTTGGCTTTGGAGTAGAGGAATG -3'
(R):5'- CTGATGGTCAGTGGGGCAC -3'

Posted On

2021-04-30