Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:Kndc1'

219937

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

040021-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139921280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 828 (H828Q)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053445
AA Change: H828Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: H828Q

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,117,634	S675R	probably damaging	Het
Akap5	A	T	12: 76,329,348	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,405,597	D102G	probably damaging	Het
Aox3	A	T	1: 58,138,232	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,504,356	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,272,548	P121L	probably damaging	Het
BC034090	C	T	1: 155,221,432	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,625,392	Y128N	probably damaging	Het
Bin3	A	G	14: 70,134,773	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,448,284	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,690,722	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955	I135L	possibly damaging	Het
Chd3	T	C	11: 69,349,052	D1650G	probably benign	Het
Cherp	A	C	8: 72,474,769	N14K	probably damaging	Het
Clint1	C	T	11: 45,894,092	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,407,577	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,371,388		noncoding transcript	Het
Dapk1	A	T	13: 60,721,857	K304N	probably damaging	Het
Dnah6	T	A	6: 73,067,466	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589	I296K	probably benign	Het
Elp2	A	T	18: 24,631,458	T621S	probably benign	Het
Eml6	G	T	11: 29,831,128	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,367,166	M192I	possibly damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gas6	C	T	8: 13,468,266	V523M	probably damaging	Het
Ggn	A	T	7: 29,173,763		probably null	Het
Gimap8	A	G	6: 48,656,353	T369A	probably damaging	Het
Gm13101	A	T	4: 143,966,067	D121E	probably benign	Het
Grm5	T	C	7: 88,074,872	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,104,924	A354V	probably damaging	Het
Habp4	G	A	13: 64,170,181		probably null	Het
Has2	A	G	15: 56,667,868	W484R	probably damaging	Het
Herc4	G	T	10: 63,244,038		probably benign	Het
Igf2	C	A	7: 142,654,399	E106D	probably damaging	Het
Il17rb	A	T	14: 29,996,840	C428*	probably null	Het
Ipo11	A	T	13: 106,919,622	N47K	probably benign	Het
Itga4	T	G	2: 79,277,794	S197A	probably damaging	Het
Itpr1	T	A	6: 108,440,536	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919	T431I	probably benign	Het
Kif5a	A	T	10: 127,239,175	V523E	probably benign	Het
Klhl41	A	T	2: 69,683,496	D573V	possibly damaging	Het
Leng8	T	A	7: 4,143,610	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,310,851	E608K	probably benign	Het
Mcf2	T	A	X: 60,077,214	R850S	probably damaging	Het
Mmp2	A	G	8: 92,850,203	N618S	probably benign	Het
Morn5	A	T	2: 36,052,938	M17L	probably benign	Het
Nme8	T	C	13: 19,696,883	N26S	probably damaging	Het
Nostrin	C	A	2: 69,144,767		probably null	Het
Npy4r	T	A	14: 34,147,197	I45F	possibly damaging	Het
Olfr1163	A	G	2: 88,070,719	V221A	probably benign	Het
Olfr1242	A	G	2: 89,493,998	F105L	probably benign	Het
Olfr170	C	T	16: 19,606,131	C179Y	probably benign	Het
Olfr263	T	A	13: 21,133,489	M238K	probably benign	Het
Olfr317	T	C	11: 58,732,388	Y259C	possibly damaging	Het
Olfr339	A	G	2: 36,421,919	I174V	probably benign	Het
Olfr532	T	A	7: 140,419,111	I221F	probably damaging	Het
Oxt	A	G	2: 130,576,652	D61G	probably damaging	Het
Patl1	T	C	19: 11,939,817	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,505,074	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,061,494	S114R	probably benign	Het
Pfdn5	A	G	15: 102,326,521	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,728,036	T15N	possibly damaging	Het
Pink1	A	C	4: 138,318,005	S253A	probably null	Het
Plag1	A	T	4: 3,904,870	L107Q	probably damaging	Het
Pld5	C	A	1: 175,964,013	V476L	probably benign	Het
Prrt2	C	T	7: 127,019,409	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,237,656	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,027	T1039A	probably benign	Het
Rbm20	G	A	19: 53,859,428	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,897,097	N465K	probably benign	Het
Rgs12	A	G	5: 35,030,528	S510G	probably benign	Het
Satb1	G	A	17: 51,782,788	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,271,844	S316G	possibly damaging	Het
Siglec1	A	T	2: 131,083,357	Y395N	probably damaging	Het
Simc1	A	G	13: 54,503,888	I5V	probably benign	Het
Slc27a2	T	C	2: 126,553,615	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,997,707	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,553,067	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727	R46*	probably null	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Spag9	T	A	11: 94,092,375	L504*	probably null	Het
Spata31d1a	A	G	13: 59,702,556	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,035,227	E194D	possibly damaging	Het
Spats2	A	G	15: 99,178,494	E151G	probably damaging	Het
Sugp2	T	A	8: 70,243,211	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,473,397		probably benign	Het
Syde2	G	T	3: 145,988,408	G137V	possibly damaging	Het
Synj1	A	T	16: 90,938,696	F1456L	probably damaging	Het
Szt2	A	G	4: 118,363,665		probably benign	Het
Timd4	C	A	11: 46,820,030	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,402,786	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,769,406	Y669H	probably damaging	Het
Tmem221	T	C	8: 71,555,814	E194G	probably benign	Het
Tmem232	C	A	17: 65,500,172	V9F	probably benign	Het
Tpm1	G	A	9: 67,033,965	Q135*	probably null	Het
Trank1	A	G	9: 111,365,028	T707A	probably benign	Het
Trpm7	A	T	2: 126,823,997	Y896*	probably null	Het
Tuba4a	A	T	1: 75,216,339	Y210*	probably null	Het
Vegfa	T	G	17: 46,025,358	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,615,877	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,316,578	I508V	probably benign	Het
Vps33a	G	T	5: 123,531,181		probably null	Het
Wasl	T	A	6: 24,624,361	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,742,834	N426D	probably benign	Het
Zcchc6	A	G	13: 59,811,538	V372A	probably damaging	Het
Zeb2	T	G	2: 44,997,950	H350P	probably damaging	Het
Zfp112	T	C	7: 24,125,300	F231S	possibly damaging	Het
Zfp180	T	C	7: 24,104,518	S121P	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAACTCCAGACCCTGATG -3'
(R):5'- AAGGCAAATTCCTCCTGGATGAG -3'

Sequencing Primer
(F):5'- AGCTCAGCCACGGAATGTTC -3'
(R):5'- TCCTGGATGAGGCGCATG -3'

Posted On

2014-08-25