Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Kndc1'

404907

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

042905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139936809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1561 (F1561L)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably damaging
Transcript: ENSMUST00000053445
AA Change: F1561L

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

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: F1561L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210154

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,520,562	I349T	probably benign	Het
Adamts3	C	T	5: 89,707,300		probably null	Het
Ankar	T	C	1: 72,690,386		probably null	Het
Ankrd60	T	A	2: 173,568,817	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,196,064		probably null	Het
Arvcf	T	C	16: 18,397,643	M176T	probably benign	Het
Cachd1	T	C	4: 100,952,122	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,482,527	S933P	probably damaging	Het
Cfi	C	T	3: 129,873,040	P471S	probably damaging	Het
Ckmt2	G	T	13: 91,861,772	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,135,078	D15E	probably damaging	Het
Copb2	A	T	9: 98,585,976	K680N	probably benign	Het
D2hgdh	T	C	1: 93,829,898		probably null	Het
Dcn	A	T	10: 97,517,602	T338S	probably benign	Het
Dnah10	G	A	5: 124,773,566	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,244	I3045V	probably benign	Het
Dock3	G	A	9: 106,901,829	T307I	probably benign	Het
Dock5	A	T	14: 67,770,266	I1498N	probably benign	Het
Emc1	A	T	4: 139,354,246	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,068,915	H295N	probably benign	Het
Epha10	A	G	4: 124,885,748	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,039,315	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fignl1	A	T	11: 11,801,571	F495I	probably damaging	Het
Gm43302	C	T	5: 105,217,481	A554T	probably benign	Het
Gpr157	A	G	4: 150,098,852	N160D	probably benign	Het
Il1rn	G	A	2: 24,348,629		probably null	Het
Kctd13	T	A	7: 126,929,206	L51Q	probably damaging	Het
Mast2	A	G	4: 116,333,411		probably null	Het
Mib1	A	G	18: 10,792,975	H637R	probably damaging	Het
Moxd1	A	T	10: 24,244,253	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,185,683		probably null	Het
Myot	T	C	18: 44,354,149	F351S	probably benign	Het
N4bp2	T	A	5: 65,790,457	N143K	possibly damaging	Het
Olfr1018	T	A	2: 85,823,187	I72N	probably damaging	Het
Olfr147	A	T	9: 38,403,566	I228F	probably damaging	Het
Olfr243	T	A	7: 103,717,112	W173R	probably benign	Het
Olfr455	T	C	6: 42,539,016	D2G	probably benign	Het
Olfr623	T	C	7: 103,660,672	I193V	possibly damaging	Het
Olfr666	C	T	7: 104,893,164	V155I	probably benign	Het
Olfr917	T	A	9: 38,665,206	I213L	probably benign	Het
Patl1	C	T	19: 11,920,859	R134*	probably null	Het
Paxbp1	T	C	16: 91,015,162	I887V	probably benign	Het
Pi4kb	G	A	3: 94,994,249	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,488,686	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,038,873		probably null	Het
Rela	T	A	19: 5,645,380	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,281,622		probably benign	Het
Smco2	T	C	6: 146,871,287	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,477,349	I77F	possibly damaging	Het
Tex14	A	G	11: 87,511,472	I462V	probably benign	Het
Tmem260	C	T	14: 48,486,849	R385W	probably damaging	Het
Trrap	T	C	5: 144,844,224	V2974A	probably damaging	Het
Usp47	C	T	7: 112,053,269	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,551,421	N247S	probably benign	Het
Zeb2	A	C	2: 44,997,095	M582R	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
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
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'- GCCCAGAAGATCAGCTATTCC -3'
(R):5'- ATCTTCGCAGGCAGGATTC -3'

Sequencing Primer
(F):5'- CAGCTATTCCAACAGATCTCAGTTG -3'
(R):5'- TTCGCAGGCAGGATTCTCCAAG -3'

Posted On

2016-07-22