Mutagenetix > Incidental Mutation

Incidental Mutation 'R8447:Kndc1'

654549

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139901205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000113856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053445] [ENSMUST00000121839]

AlphaFold

Q0KK55

Predicted Effect

probably damaging
Transcript: ENSMUST00000053445
AA Change: V69A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: V69A

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

probably damaging
Transcript: ENSMUST00000121839
AA Change: V69A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113856
Gene: ENSMUSG00000066129
AA Change: V69A

Domain	Start	End	E-Value	Type
KIND	37	217	4.66e-65	SMART
Blast:KIND	381	454	2e-10	BLAST
low complexity region	455	465	N/A	INTRINSIC
Blast:KIND	466	539	7e-32	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,907,278	T136P	probably damaging	Het
Abcc3	A	T	11: 94,364,060	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,748,118	N289K	probably damaging	Het
Akap12	A	G	10: 4,356,289	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,598,794	L167F	probably damaging	Het
Cars	T	C	7: 143,570,029	K506E	possibly damaging	Het
Cfap46	C	A	7: 139,680,986	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Clec16a	C	A	16: 10,741,623	T920K	probably benign	Het
Coro2b	C	T	9: 62,426,560	E351K	probably damaging	Het
Diablo	T	C	5: 123,517,766	E163G	probably damaging	Het
Dnah6	A	G	6: 73,138,774	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,983,893	D37E	probably benign	Het
Eml4	A	T	17: 83,448,227	Q408L	probably damaging	Het
F2rl3	T	C	8: 72,763,335	*397R	probably null	Het
Fance	T	A	17: 28,326,181	L127Q	unknown	Het
Fat4	T	C	3: 38,979,675	V2492A	possibly damaging	Het
Gatsl3	T	C	11: 4,220,165	V81A	probably damaging	Het
Ggta1	C	T	2: 35,402,561	D245N	probably damaging	Het
Gli1	T	C	10: 127,330,237	N1049S	probably benign	Het
Grin2c	A	G	11: 115,257,389	V354A	probably benign	Het
Kank4	T	A	4: 98,778,492	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,611,897	V376A	probably benign	Het
Lcmt1	T	A	7: 123,421,602	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,498,630	V99D	probably damaging	Het
Lepr	T	C	4: 101,814,491	V904A	probably benign	Het
Lipe	G	T	7: 25,380,592	N710K	probably damaging	Het
Med1	C	A	11: 98,169,414	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,941,000	I96K	probably benign	Het
Obox1	A	T	7: 15,555,616	Q110L	probably damaging	Het
Olfr1101	T	A	2: 86,988,541	I212F	probably benign	Het
Olfr1281	T	A	2: 111,328,962	I181N	possibly damaging	Het
Olfr1289	T	A	2: 111,483,756	Y137N	probably damaging	Het
Olfr1410	C	A	1: 92,607,772		probably benign	Het
Olfr745	T	C	14: 50,642,551	V84A	probably benign	Het
Olfr809	T	G	10: 129,776,502	M211R	possibly damaging	Het
Pah	T	C	10: 87,581,965		probably null	Het
Pate1	A	T	9: 35,686,335	N40K	probably benign	Het
Pclo	C	A	5: 14,681,409	D182E		Het
Prl7a2	A	T	13: 27,665,958	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,172,039	D894V	probably benign	Het
Ripor2	T	A	13: 24,723,788	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,701,029		probably null	Het
Sh2d3c	A	G	2: 32,752,659	T706A	probably damaging	Het
Slc17a2	T	C	13: 23,822,326	F445S	possibly damaging	Het
Spata20	C	A	11: 94,482,254	L515F	probably damaging	Het
Tcf20	G	A	15: 82,853,236	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,139,768	P236Q	probably damaging	Het
Tmem135	T	C	7: 89,154,032	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261	Q548R	probably benign	Het
Tmem94	G	T	11: 115,797,197	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,797,870	R1301H	probably benign	Het
Zp3	G	A	5: 135,984,390	G192E	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
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
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'- CACTGGTGCAGTATTCTCCG -3'
(R):5'- AAAGAAACTGGGGCCTCGTG -3'

Sequencing Primer
(F):5'- GCAGTATTCTCCGGATGGACTAC -3'
(R):5'- AACTGCTCCGTGCTTCCAG -3'

Posted On

2020-10-20