Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Kndc1'

479301

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

044208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6038 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CT to C at 139923775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably null
Transcript: ENSMUST00000053445

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129

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

1x: 99.8%
3x: 99.1%
10x: 93.7%
20x: 76.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,304,360	C1327R	probably damaging	Het
Adcy7	A	G	8: 88,322,980	T704A	probably benign	Het
Adgra3	A	T	5: 49,999,145	Y414*	probably null	Het
Adgrf1	T	C	17: 43,295,209	S75P	probably benign	Het
Antxr1	C	A	6: 87,287,000		probably null	Het
Arid1b	A	T	17: 5,336,682	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,246,334	D649G	probably damaging	Het
BC067074	G	A	13: 113,318,619	V400M	possibly damaging	Het
Cabin1	A	G	10: 75,739,366	V615A	probably benign	Het
Cntnap1	G	A	11: 101,184,636	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140	T971A	probably benign	Het
Coro7	A	T	16: 4,679,550		probably null	Het
Defb19	T	G	2: 152,576,267		probably null	Het
Dnah17	T	C	11: 118,055,889	D3045G	probably benign	Het
Dock4	A	T	12: 40,733,351		probably null	Het
Egln3	A	G	12: 54,181,690	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,854,335	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521	E229K	probably damaging	Het
Fam71a	C	T	1: 191,162,722	E575K	probably damaging	Het
Fam71e1	C	T	7: 44,500,295	R147W	probably damaging	Het
Fam71e2	T	C	7: 4,753,595		probably null	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Gxylt2	T	A	6: 100,804,594	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,368,395	C6F	probably benign	Het
Hecw1	G	T	13: 14,346,062	Q197K	probably benign	Het
Hk3	T	C	13: 55,006,560	M778V	probably benign	Het
Hydin	A	G	8: 110,599,031	T4691A	probably benign	Het
Larp1	A	G	11: 58,041,605	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,872,380	W738G	probably damaging	Het
March10	A	G	11: 105,402,051	S72P	probably damaging	Het
Mdga2	A	T	12: 66,630,053	D488E	probably damaging	Het
Mrc1	G	C	2: 14,257,071	W290C	probably damaging	Het
Nhp2	T	C	11: 51,620,085	V55A	probably benign	Het
Olfr1116	T	A	2: 87,269,267	I141N	possibly damaging	Het
Olfr58	A	G	9: 19,783,562	Y143C	probably benign	Het
Olfr741	T	C	14: 50,486,220	L254P	probably damaging	Het
Osbpl7	C	T	11: 97,050,716	P22S	probably benign	Het
Pebp1	A	T	5: 117,284,105	L124Q	probably benign	Het
Pfkp	G	T	13: 6,597,969	H524N	probably benign	Het
Pnmt	G	A	11: 98,387,768	D187N	probably damaging	Het
Ppl	A	T	16: 5,102,581	I355K	possibly damaging	Het
Prom1	A	T	5: 44,001,793	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,031,970	S23P	probably benign	Het
Sap130	T	A	18: 31,680,486	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,946,836		probably null	Het
Skiv2l2	A	T	13: 112,891,290	S679T	probably benign	Het
Slc12a3	T	G	8: 94,330,472	S124R	probably benign	Het
Slc24a5	A	G	2: 125,085,731	T317A	probably benign	Het
Smarcad1	T	C	6: 65,073,248	S284P	possibly damaging	Het
Spag9	C	G	11: 94,112,092	R724G	probably damaging	Het
Speg	T	C	1: 75,418,459		probably null	Het
Steap3	A	G	1: 120,241,641	Y271H	probably damaging	Het
Syne2	C	T	12: 75,878,384	Q44*	probably null	Het
Syt16	G	A	12: 74,222,535		probably null	Het
Tas2r114	A	T	6: 131,689,481	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,202,507	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052	F259L	probably damaging	Het
Vmn2r60	C	A	7: 42,194,962	A583D	probably benign	Het
Wdhd1	T	C	14: 47,263,580	Q455R	possibly damaging	Het
Wdr17	A	G	8: 54,632,311		probably null	Het
Xbp1	T	C	11: 5,524,798	L233P	probably benign	Het
Zbtb17	A	G	4: 141,464,441	E288G	probably benign	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
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

Posted On

2017-06-26