Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Kndc1'

367680

Institutional Source

Beutler Lab

Gene Symbol

Kndc1

Ensembl Gene

ENSMUSG00000066129

Gene Name

kinase non-catalytic C-lobe domain (KIND) containing 1

Synonyms

B830014K08Rik, 2410012C07Rik, very-kind, VKIND

MMRRC Submission

042411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 139924031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 1083 (W1083*)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053445]

AlphaFold

Q0KK55

Predicted Effect

probably null
Transcript: ENSMUST00000053445
AA Change: W1083*

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: W1083*

Domain	Start	End	E-Value	Type
KIND	37	217	4.66e-65	SMART
Blast:KIND	381	454	2e-10	BLAST
KIND	456	620	1.22e-50	SMART
low complexity region	658	670	N/A	INTRINSIC
low complexity region	755	771	N/A	INTRINSIC
low complexity region	792	801	N/A	INTRINSIC
low complexity region	949	965	N/A	INTRINSIC
coiled coil region	1121	1151	N/A	INTRINSIC
Pfam:RasGEF_N	1242	1341	2.2e-17	PFAM
Pfam:RasGEF	1464	1672	3.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156941

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,598		probably null	Het
9230009I02Rik	A	G	11: 51,091,262		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972	I129V	probably benign	Het
Adipor2	A	G	6: 119,359,086	L225P	probably benign	Het
Arhgap25	A	G	6: 87,496,071	F35L	probably benign	Het
Asah2	A	T	19: 32,052,858	M138K	probably damaging	Het
Asxl1	T	A	2: 153,401,985	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,752,296	S114R	probably benign	Het
Brpf3	T	G	17: 28,821,259	S885A	probably benign	Het
Cacna1g	G	T	11: 94,411,472	H1944N	possibly damaging	Het
Ccdc110	G	A	8: 45,943,208	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,136,048	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,517,756	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Copa	A	G	1: 172,105,220	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,355,947	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,761,562	I81F	possibly damaging	Het
Dscc1	A	T	15: 55,080,258	D405E	probably benign	Het
Ece1	A	G	4: 137,945,153	D369G	probably benign	Het
Exd2	T	C	12: 80,475,818	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,588,408	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,039	V719A	possibly damaging	Het
Fscb	C	T	12: 64,473,690	G334D	probably damaging	Het
Glud1	T	C	14: 34,321,825		probably null	Het
Gm8126	T	A	14: 43,261,615	Y180*	probably null	Het
Grip2	G	A	6: 91,782,432	P347L	possibly damaging	Het
H60b	C	T	10: 22,288,745		probably benign	Het
Hist1h1d	T	C	13: 23,555,402	S105P	probably damaging	Het
Itga6	T	C	2: 71,822,444	V217A	probably benign	Het
Limch1	A	T	5: 67,027,507	D613V	probably damaging	Het
Lpl	T	A	8: 68,896,751	C310S	probably damaging	Het
March1	T	A	8: 66,387,224	C220S	probably benign	Het
Mbd5	A	C	2: 49,274,611	H308P	probably damaging	Het
Med13	T	C	11: 86,276,920	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,817,301	V442D	possibly damaging	Het
Mstn	A	T	1: 53,062,108	T115S	probably benign	Het
Nfil3	A	G	13: 52,968,014	S285P	probably damaging	Het
Olfr218	A	C	1: 173,204,229	Y291S	probably damaging	Het
Olfr645	A	G	7: 104,084,295	S262P	probably damaging	Het
Otof	A	G	5: 30,394,682	V321A	probably benign	Het
Pcdha8	G	T	18: 36,994,573	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,490,454	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,993,296	D51G	probably benign	Het
Pdzd8	A	G	19: 59,300,860	Y703H	probably damaging	Het
Pecr	G	T	1: 72,267,435	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,873,273		probably null	Het
Plxnb2	A	T	15: 89,166,947	H356Q	probably benign	Het
Polr1b	T	C	2: 129,105,328	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,082,767	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,544,417	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,297,623		noncoding transcript	Het
Sema3g	A	G	14: 31,220,709	D89G	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slfn8	A	G	11: 83,017,393	V108A	probably damaging	Het
Smg9	T	A	7: 24,407,594	M221K	possibly damaging	Het
Soga1	G	T	2: 157,030,569	Q953K	probably benign	Het
Sos1	A	G	17: 80,398,231	S1304P	probably damaging	Het
Spert	T	A	14: 75,583,106	Y393F	probably damaging	Het
Sqle	C	A	15: 59,317,839	A110E	possibly damaging	Het
Stab2	G	A	10: 86,907,371	Q1154*	probably null	Het
Taf4b	A	G	18: 14,804,520	T217A	probably benign	Het
Tex15	T	C	8: 33,582,732	V2769A	probably benign	Het
Tmem156	A	T	5: 65,080,159	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,457,139	K452N	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tph1	T	C	7: 46,656,952	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,851	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,835,525	T93I	probably damaging	Het
Ttc25	C	A	11: 100,549,916	N74K	probably benign	Het
Ttn	T	A	2: 76,741,434	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,555,302	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,440,819	A126G	probably benign	Het
Vmn1r210	T	G	13: 22,827,204	K304T	probably benign	Het
Vps25	T	C	11: 101,258,829	S160P	probably benign	Het
Vrk3	T	A	7: 44,775,476	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,581,755	L708P	probably benign	Het
Washc3	C	T	10: 88,219,262	Q105*	probably null	Het
Wdr83os	T	A	8: 85,080,781		probably benign	Het
Wwc1	T	C	11: 35,867,296	H741R	probably benign	Het
Zan	T	C	5: 137,436,313		probably benign	Het
Zdhhc4	A	T	5: 143,326,176	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,997,770	D38E	probably damaging	Het

Other mutations in Kndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Kndc1	APN	7	139901988	splice site	probably benign
IGL01061:Kndc1	APN	7	139922694	missense	probably benign	0.00
IGL01099:Kndc1	APN	7	139920784	missense	probably damaging	1.00
IGL01522:Kndc1	APN	7	139913972	splice site	probably benign
IGL01767:Kndc1	APN	7	139930046	missense	probably damaging	1.00
IGL01884:Kndc1	APN	7	139914194	missense	probably damaging	1.00
IGL01932:Kndc1	APN	7	139923790	missense	probably damaging	0.98
IGL02133:Kndc1	APN	7	139920767	missense	probably benign	0.19
IGL02411:Kndc1	APN	7	139921913	critical splice donor site	probably null
IGL02472:Kndc1	APN	7	139910901	missense	probably benign	0.01
IGL02537:Kndc1	APN	7	139910410	missense	probably benign	0.01
IGL02708:Kndc1	APN	7	139901181	missense	probably damaging	1.00
IGL03115:Kndc1	APN	7	139921509	missense	probably benign	0.28
IGL03160:Kndc1	APN	7	139920689	nonsense	probably null
IGL03138:Kndc1	UTSW	7	139939878	missense	possibly damaging	0.89
PIT4142001:Kndc1	UTSW	7	139923776	frame shift	probably null
PIT4696001:Kndc1	UTSW	7	139932917	missense	probably damaging	1.00
R0349:Kndc1	UTSW	7	139910304	missense	probably benign	0.00
R0384:Kndc1	UTSW	7	139910599	missense	possibly damaging	0.85
R0415:Kndc1	UTSW	7	139930124	missense	probably damaging	1.00
R0421:Kndc1	UTSW	7	139908996	missense	probably damaging	1.00
R0487:Kndc1	UTSW	7	139914023	missense	probably null	0.19
R0530:Kndc1	UTSW	7	139901237	missense	probably damaging	1.00
R0905:Kndc1	UTSW	7	139923735	missense	possibly damaging	0.94
R1434:Kndc1	UTSW	7	139922684	missense	probably damaging	1.00
R1608:Kndc1	UTSW	7	139927408	missense	possibly damaging	0.80
R1644:Kndc1	UTSW	7	139930756	missense	probably damaging	1.00
R1835:Kndc1	UTSW	7	139927711	missense	probably damaging	0.99
R2012:Kndc1	UTSW	7	139921280	missense	possibly damaging	0.90
R2102:Kndc1	UTSW	7	139930761	missense	probably benign	0.02
R2103:Kndc1	UTSW	7	139921234	missense	probably benign	0.01
R2128:Kndc1	UTSW	7	139930112	missense	probably damaging	1.00
R2516:Kndc1	UTSW	7	139921822	missense	probably damaging	1.00
R3030:Kndc1	UTSW	7	139901207	missense	probably damaging	1.00
R3617:Kndc1	UTSW	7	139902060	splice site	probably benign
R3747:Kndc1	UTSW	7	139927904	critical splice donor site	probably null
R3848:Kndc1	UTSW	7	139908977	missense	probably damaging	1.00
R4028:Kndc1	UTSW	7	139930028	missense	probably damaging	0.98
R4043:Kndc1	UTSW	7	139924129	missense	probably benign	0.06
R4044:Kndc1	UTSW	7	139924129	missense	probably benign	0.06
R4095:Kndc1	UTSW	7	139937025	missense	possibly damaging	0.49
R4289:Kndc1	UTSW	7	139910882	missense	probably benign	0.01
R4478:Kndc1	UTSW	7	139920684	missense	probably damaging	1.00
R4514:Kndc1	UTSW	7	139910286	missense	probably benign	0.00
R4540:Kndc1	UTSW	7	139921427	nonsense	probably null
R4584:Kndc1	UTSW	7	139901243	missense	probably damaging	1.00
R4693:Kndc1	UTSW	7	139921779	missense	probably benign	0.02
R4705:Kndc1	UTSW	7	139930123	missense	possibly damaging	0.81
R4859:Kndc1	UTSW	7	139921905	missense	probably benign	0.03
R5004:Kndc1	UTSW	7	139932879	nonsense	probably null
R5037:Kndc1	UTSW	7	139910455	missense	possibly damaging	0.52
R5322:Kndc1	UTSW	7	139936809	missense	probably damaging	1.00
R5428:Kndc1	UTSW	7	139908962	missense	probably damaging	0.99
R5503:Kndc1	UTSW	7	139931889	missense	probably damaging	1.00
R5506:Kndc1	UTSW	7	139927891	missense	probably damaging	1.00
R5525:Kndc1	UTSW	7	139924111	missense	probably benign	0.00
R5888:Kndc1	UTSW	7	139895217	missense	probably benign	0.00
R5942:Kndc1	UTSW	7	139936879	missense	probably damaging	1.00
R5979:Kndc1	UTSW	7	139939827	missense	probably benign	0.05
R5990:Kndc1	UTSW	7	139927420	missense	probably damaging	0.99
R6038:Kndc1	UTSW	7	139923775	frame shift	probably null
R6076:Kndc1	UTSW	7	139902038	missense	probably damaging	1.00
R6118:Kndc1	UTSW	7	139923802	missense	probably damaging	1.00
R6151:Kndc1	UTSW	7	139921213	missense	probably benign	0.04
R6276:Kndc1	UTSW	7	139921063	missense	probably benign
R6367:Kndc1	UTSW	7	139913506	missense	probably damaging	1.00
R6726:Kndc1	UTSW	7	139922751	critical splice donor site	probably null
R6745:Kndc1	UTSW	7	139920976	missense	probably benign	0.02
R6886:Kndc1	UTSW	7	139913569	missense	probably benign	0.01
R6912:Kndc1	UTSW	7	139910278	missense	probably damaging	0.99
R7070:Kndc1	UTSW	7	139921828	missense	probably damaging	1.00
R7123:Kndc1	UTSW	7	139936836	missense	probably damaging	0.99
R7158:Kndc1	UTSW	7	139931860	missense	possibly damaging	0.48
R7248:Kndc1	UTSW	7	139920783	missense	probably damaging	1.00
R7437:Kndc1	UTSW	7	139909043	missense	probably damaging	1.00
R7564:Kndc1	UTSW	7	139920696	missense	probably benign	0.01
R7570:Kndc1	UTSW	7	139923775	frame shift	probably null
R7625:Kndc1	UTSW	7	139938017	missense	possibly damaging	0.90
R7629:Kndc1	UTSW	7	139895260	missense	probably damaging	1.00
R7726:Kndc1	UTSW	7	139939838	missense	possibly damaging	0.67
R7840:Kndc1	UTSW	7	139923816	missense	probably damaging	1.00
R7859:Kndc1	UTSW	7	139920964	missense	possibly damaging	0.57
R7934:Kndc1	UTSW	7	139921486	missense	probably benign	0.02
R8011:Kndc1	UTSW	7	139910620	missense	possibly damaging	0.90
R8062:Kndc1	UTSW	7	139918844	missense	probably benign	0.01
R8134:Kndc1	UTSW	7	139901369	splice site	probably null
R8197:Kndc1	UTSW	7	139913531	missense	probably damaging	1.00
R8350:Kndc1	UTSW	7	139924045	missense	probably damaging	1.00
R8399:Kndc1	UTSW	7	139913518	missense	probably damaging	1.00
R8400:Kndc1	UTSW	7	139913518	missense	probably damaging	1.00
R8447:Kndc1	UTSW	7	139901205	missense	probably damaging	1.00
R8534:Kndc1	UTSW	7	139923753	missense	probably benign	0.27
R8735:Kndc1	UTSW	7	139910214	missense	probably benign	0.00
R8816:Kndc1	UTSW	7	139937996	missense	probably damaging	1.00
R8883:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R8899:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139924061	missense	possibly damaging	0.95
R8961:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9002:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9010:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9065:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9066:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9223:Kndc1	UTSW	7	139921441	missense	possibly damaging	0.89
R9230:Kndc1	UTSW	7	139920684	missense	probably damaging	1.00
R9291:Kndc1	UTSW	7	139895224	missense	possibly damaging	0.55
R9441:Kndc1	UTSW	7	139921476	missense	probably damaging	0.99
R9476:Kndc1	UTSW	7	139930118	missense	probably benign	0.00
R9510:Kndc1	UTSW	7	139930118	missense	probably benign	0.00
R9518:Kndc1	UTSW	7	139939914	missense	probably damaging	1.00
R9758:Kndc1	UTSW	7	139920704	missense	possibly damaging	0.71
Z1177:Kndc1	UTSW	7	139921912	missense	possibly damaging	0.63
Z1186:Kndc1	UTSW	7	139910813	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCAGAAGTCAATAAAAGTCACGCG -3'
(R):5'- AAGTGGCCTGAAAACCTTGC -3'

Sequencing Primer
(F):5'- CGAGAGCAGCAACCAGAG -3'
(R):5'- ATCATTGCTCAGGGTGTTCCTAAGAC -3'

Posted On

2015-12-29