Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01932:Kndc1'

180465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kndc1

Ensembl Gene

ENSMUSG00000066129

Gene Name

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

Synonyms

B830014K08Rik, 2410012C07Rik, very-kind, VKIND

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01932

Quality Score

Status

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139923790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1003 (L1003P)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably damaging
Transcript: ENSMUST00000053445
AA Change: L1003P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: L1003P

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

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,125	N73S	probably benign	Het
Adcy1	T	A	11: 7,100,565		probably benign	Het
Adipor2	G	A	6: 119,361,864	H143Y	probably damaging	Het
Ankar	A	G	1: 72,698,987	I12T	probably benign	Het
Ankdd1a	C	T	9: 65,507,611		probably benign	Het
Cadps	A	G	14: 12,373,609		probably benign	Het
Cdh22	G	A	2: 165,170,808	T119M	probably benign	Het
Col6a6	T	A	9: 105,689,626	K2223N	probably benign	Het
Dnah11	G	A	12: 118,192,270		probably benign	Het
Ezh2	T	C	6: 47,532,048	T674A	probably damaging	Het
Ffar4	A	G	19: 38,097,530	E135G	probably damaging	Het
Fsip2	G	A	2: 82,994,005	R6694Q	possibly damaging	Het
Gm10717	A	T	9: 3,026,287	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4222	A	G	2: 90,148,457		probably benign	Het
Hipk3	T	A	2: 104,470,981	N289Y	probably damaging	Het
Mdk	T	C	2: 91,931,116	N72S	probably damaging	Het
Olfr520	T	A	7: 99,735,500	I119N	probably damaging	Het
Olfr666	T	A	7: 104,893,218	I137F	probably damaging	Het
Pafah1b3	A	T	7: 25,297,091	C56S	probably benign	Het
Pdzrn4	A	G	15: 92,746,278	I189V	probably damaging	Het
Plekhh2	A	G	17: 84,577,261	N801S	probably benign	Het
Pramel7	A	T	2: 87,491,113	S193T	possibly damaging	Het
Prkag1	A	G	15: 98,814,531	I171T	probably damaging	Het
Rap1b	A	T	10: 117,822,860	F23I	probably damaging	Het
Scamp2	A	G	9: 57,561,116		probably benign	Het
Ttn	A	T	2: 76,884,474		probably benign	Het
Vmn2r17	A	T	5: 109,427,050	R74S	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wif1	G	T	10: 121,096,035	C288F	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
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
R4773:Kndc1	UTSW	7	139924031	nonsense	probably null
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

Posted On

2014-05-07