Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01522:Kndc1'

89458

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, VKIND, very-kind, 2410012C07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

139474612-139521450 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 139493888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113856 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000121839

SMART Domains

Protein: ENSMUSP00000113856
Gene: ENSMUSG00000066129

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154782

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,065,245 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,850,802 (GRCm39)	N579S	probably benign	Het
Akr1c19	A	G	13: 4,289,098 (GRCm39)		probably benign	Het
Ankrd39	T	A	1: 36,581,142 (GRCm39)	H69L	probably damaging	Het
Apcdd1	T	A	18: 63,085,186 (GRCm39)	M461K	possibly damaging	Het
Bpifa3	G	A	2: 153,979,502 (GRCm39)	C209Y	probably damaging	Het
Cep131	T	C	11: 119,957,989 (GRCm39)	E779G	probably benign	Het
Cep85	T	C	4: 133,879,566 (GRCm39)	Q394R	probably damaging	Het
Cep85	G	T	4: 133,879,567 (GRCm39)	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,101,992 (GRCm39)	Y364C	probably benign	Het
Fetub	G	A	16: 22,748,391 (GRCm39)	M1I	probably null	Het
Greb1	T	C	12: 16,751,202 (GRCm39)	I1003V	probably damaging	Het
Hsf3	A	G	X: 95,364,200 (GRCm39)		probably benign	Het
Jcad	A	G	18: 4,673,312 (GRCm39)	N358S	probably damaging	Het
Lama1	A	T	17: 68,059,769 (GRCm39)		probably benign	Het
Mark2	A	G	19: 7,258,603 (GRCm39)	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,229 (GRCm39)	W35R	probably damaging	Het
Ndc80	A	G	17: 71,806,320 (GRCm39)	V578A	probably benign	Het
Nfyc	T	C	4: 120,638,721 (GRCm39)	E42G	probably damaging	Het
Or1j15	A	G	2: 36,459,233 (GRCm39)	T208A	probably benign	Het
Or52b4	A	T	7: 102,184,391 (GRCm39)	I146F	probably damaging	Het
Or5d37	T	C	2: 87,923,360 (GRCm39)	K307E	possibly damaging	Het
Or8g21	A	T	9: 38,906,396 (GRCm39)	C112S	probably benign	Het
Or9i16	A	T	19: 13,864,722 (GRCm39)	L284*	probably null	Het
Pcdha11	T	C	18: 37,318,061 (GRCm39)	F925L	probably damaging	Het
Pdcd1	T	G	1: 93,968,571 (GRCm39)	R154S	probably benign	Het
Pepd	T	A	7: 34,623,865 (GRCm39)	D87E	probably benign	Het
Pfn4	A	G	12: 4,820,240 (GRCm39)	T30A	probably benign	Het
Pgpep1l	A	G	7: 67,887,456 (GRCm39)	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,889,748 (GRCm39)	N340S	probably benign	Het
Plcb4	A	G	2: 135,844,547 (GRCm39)	D155G	probably damaging	Het
Plg	G	A	17: 12,622,956 (GRCm39)	G499S	probably damaging	Het
Plin3	C	T	17: 56,587,799 (GRCm39)	W305*	probably null	Het
Polq	C	A	16: 36,848,265 (GRCm39)	L291I	probably damaging	Het
Sanbr	A	G	11: 23,532,865 (GRCm39)		probably null	Het
Sdf2l1	T	A	16: 16,950,014 (GRCm39)	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,590,936 (GRCm39)	D276N	possibly damaging	Het
Syk	A	G	13: 52,797,097 (GRCm39)	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,339 (GRCm39)	V302I	probably benign	Het
Uso1	T	C	5: 92,329,278 (GRCm39)	F389L	probably damaging	Het
Wwc2	T	A	8: 48,321,668 (GRCm39)	Y482F	unknown	Het

Other mutations in Kndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Kndc1	APN	7	139,481,904 (GRCm39)	splice site	probably benign
IGL01061:Kndc1	APN	7	139,502,610 (GRCm39)	missense	probably benign	0.00
IGL01099:Kndc1	APN	7	139,500,700 (GRCm39)	missense	probably damaging	1.00
IGL01767:Kndc1	APN	7	139,509,959 (GRCm39)	missense	probably damaging	1.00
IGL01884:Kndc1	APN	7	139,494,110 (GRCm39)	missense	probably damaging	1.00
IGL01932:Kndc1	APN	7	139,503,705 (GRCm39)	missense	probably damaging	0.98
IGL02133:Kndc1	APN	7	139,500,683 (GRCm39)	missense	probably benign	0.19
IGL02411:Kndc1	APN	7	139,501,829 (GRCm39)	critical splice donor site	probably null
IGL02472:Kndc1	APN	7	139,490,817 (GRCm39)	missense	probably benign	0.01
IGL02537:Kndc1	APN	7	139,490,326 (GRCm39)	missense	probably benign	0.01
IGL02708:Kndc1	APN	7	139,481,097 (GRCm39)	missense	probably damaging	1.00
IGL03115:Kndc1	APN	7	139,501,425 (GRCm39)	missense	probably benign	0.28
IGL03160:Kndc1	APN	7	139,500,605 (GRCm39)	nonsense	probably null
IGL03138:Kndc1	UTSW	7	139,519,791 (GRCm39)	missense	possibly damaging	0.89
PIT4142001:Kndc1	UTSW	7	139,503,692 (GRCm39)	frame shift	probably null
PIT4696001:Kndc1	UTSW	7	139,512,830 (GRCm39)	missense	probably damaging	1.00
R0349:Kndc1	UTSW	7	139,490,220 (GRCm39)	missense	probably benign	0.00
R0384:Kndc1	UTSW	7	139,490,515 (GRCm39)	missense	possibly damaging	0.85
R0415:Kndc1	UTSW	7	139,510,037 (GRCm39)	missense	probably damaging	1.00
R0421:Kndc1	UTSW	7	139,488,912 (GRCm39)	missense	probably damaging	1.00
R0487:Kndc1	UTSW	7	139,493,939 (GRCm39)	missense	probably null	0.19
R0530:Kndc1	UTSW	7	139,481,153 (GRCm39)	missense	probably damaging	1.00
R0905:Kndc1	UTSW	7	139,503,651 (GRCm39)	missense	possibly damaging	0.94
R1434:Kndc1	UTSW	7	139,502,600 (GRCm39)	missense	probably damaging	1.00
R1608:Kndc1	UTSW	7	139,507,321 (GRCm39)	missense	possibly damaging	0.80
R1644:Kndc1	UTSW	7	139,510,669 (GRCm39)	missense	probably damaging	1.00
R1835:Kndc1	UTSW	7	139,507,624 (GRCm39)	missense	probably damaging	0.99
R2012:Kndc1	UTSW	7	139,501,196 (GRCm39)	missense	possibly damaging	0.90
R2102:Kndc1	UTSW	7	139,510,674 (GRCm39)	missense	probably benign	0.02
R2103:Kndc1	UTSW	7	139,501,150 (GRCm39)	missense	probably benign	0.01
R2128:Kndc1	UTSW	7	139,510,025 (GRCm39)	missense	probably damaging	1.00
R2516:Kndc1	UTSW	7	139,501,738 (GRCm39)	missense	probably damaging	1.00
R3030:Kndc1	UTSW	7	139,481,123 (GRCm39)	missense	probably damaging	1.00
R3617:Kndc1	UTSW	7	139,481,976 (GRCm39)	splice site	probably benign
R3747:Kndc1	UTSW	7	139,507,817 (GRCm39)	critical splice donor site	probably null
R3848:Kndc1	UTSW	7	139,488,893 (GRCm39)	missense	probably damaging	1.00
R4028:Kndc1	UTSW	7	139,509,941 (GRCm39)	missense	probably damaging	0.98
R4043:Kndc1	UTSW	7	139,504,044 (GRCm39)	missense	probably benign	0.06
R4044:Kndc1	UTSW	7	139,504,044 (GRCm39)	missense	probably benign	0.06
R4095:Kndc1	UTSW	7	139,516,938 (GRCm39)	missense	possibly damaging	0.49
R4289:Kndc1	UTSW	7	139,490,798 (GRCm39)	missense	probably benign	0.01
R4478:Kndc1	UTSW	7	139,500,600 (GRCm39)	missense	probably damaging	1.00
R4514:Kndc1	UTSW	7	139,490,202 (GRCm39)	missense	probably benign	0.00
R4540:Kndc1	UTSW	7	139,501,343 (GRCm39)	nonsense	probably null
R4584:Kndc1	UTSW	7	139,481,159 (GRCm39)	missense	probably damaging	1.00
R4693:Kndc1	UTSW	7	139,501,695 (GRCm39)	missense	probably benign	0.02
R4705:Kndc1	UTSW	7	139,510,036 (GRCm39)	missense	possibly damaging	0.81
R4773:Kndc1	UTSW	7	139,503,946 (GRCm39)	nonsense	probably null
R4859:Kndc1	UTSW	7	139,501,821 (GRCm39)	missense	probably benign	0.03
R5004:Kndc1	UTSW	7	139,512,792 (GRCm39)	nonsense	probably null
R5037:Kndc1	UTSW	7	139,490,371 (GRCm39)	missense	possibly damaging	0.52
R5322:Kndc1	UTSW	7	139,516,722 (GRCm39)	missense	probably damaging	1.00
R5428:Kndc1	UTSW	7	139,488,878 (GRCm39)	missense	probably damaging	0.99
R5503:Kndc1	UTSW	7	139,511,802 (GRCm39)	missense	probably damaging	1.00
R5506:Kndc1	UTSW	7	139,507,804 (GRCm39)	missense	probably damaging	1.00
R5525:Kndc1	UTSW	7	139,504,026 (GRCm39)	missense	probably benign	0.00
R5888:Kndc1	UTSW	7	139,475,133 (GRCm39)	missense	probably benign	0.00
R5942:Kndc1	UTSW	7	139,516,792 (GRCm39)	missense	probably damaging	1.00
R5979:Kndc1	UTSW	7	139,519,740 (GRCm39)	missense	probably benign	0.05
R5990:Kndc1	UTSW	7	139,507,333 (GRCm39)	missense	probably damaging	0.99
R6038:Kndc1	UTSW	7	139,503,691 (GRCm39)	frame shift	probably null
R6076:Kndc1	UTSW	7	139,481,954 (GRCm39)	missense	probably damaging	1.00
R6118:Kndc1	UTSW	7	139,503,717 (GRCm39)	missense	probably damaging	1.00
R6151:Kndc1	UTSW	7	139,501,129 (GRCm39)	missense	probably benign	0.04
R6276:Kndc1	UTSW	7	139,500,979 (GRCm39)	missense	probably benign
R6367:Kndc1	UTSW	7	139,493,422 (GRCm39)	missense	probably damaging	1.00
R6726:Kndc1	UTSW	7	139,502,667 (GRCm39)	critical splice donor site	probably null
R6745:Kndc1	UTSW	7	139,500,892 (GRCm39)	missense	probably benign	0.02
R6886:Kndc1	UTSW	7	139,493,485 (GRCm39)	missense	probably benign	0.01
R6912:Kndc1	UTSW	7	139,490,194 (GRCm39)	missense	probably damaging	0.99
R7070:Kndc1	UTSW	7	139,501,744 (GRCm39)	missense	probably damaging	1.00
R7123:Kndc1	UTSW	7	139,516,749 (GRCm39)	missense	probably damaging	0.99
R7158:Kndc1	UTSW	7	139,511,773 (GRCm39)	missense	possibly damaging	0.48
R7248:Kndc1	UTSW	7	139,500,699 (GRCm39)	missense	probably damaging	1.00
R7437:Kndc1	UTSW	7	139,488,959 (GRCm39)	missense	probably damaging	1.00
R7564:Kndc1	UTSW	7	139,500,612 (GRCm39)	missense	probably benign	0.01
R7570:Kndc1	UTSW	7	139,503,691 (GRCm39)	frame shift	probably null
R7625:Kndc1	UTSW	7	139,517,930 (GRCm39)	missense	possibly damaging	0.90
R7629:Kndc1	UTSW	7	139,475,176 (GRCm39)	missense	probably damaging	1.00
R7726:Kndc1	UTSW	7	139,519,751 (GRCm39)	missense	possibly damaging	0.67
R7840:Kndc1	UTSW	7	139,503,731 (GRCm39)	missense	probably damaging	1.00
R7859:Kndc1	UTSW	7	139,500,880 (GRCm39)	missense	possibly damaging	0.57
R7934:Kndc1	UTSW	7	139,501,402 (GRCm39)	missense	probably benign	0.02
R8011:Kndc1	UTSW	7	139,490,536 (GRCm39)	missense	possibly damaging	0.90
R8062:Kndc1	UTSW	7	139,498,760 (GRCm39)	missense	probably benign	0.01
R8134:Kndc1	UTSW	7	139,481,285 (GRCm39)	splice site	probably null
R8197:Kndc1	UTSW	7	139,493,447 (GRCm39)	missense	probably damaging	1.00
R8350:Kndc1	UTSW	7	139,503,960 (GRCm39)	missense	probably damaging	1.00
R8399:Kndc1	UTSW	7	139,493,434 (GRCm39)	missense	probably damaging	1.00
R8400:Kndc1	UTSW	7	139,493,434 (GRCm39)	missense	probably damaging	1.00
R8447:Kndc1	UTSW	7	139,481,121 (GRCm39)	missense	probably damaging	1.00
R8534:Kndc1	UTSW	7	139,503,669 (GRCm39)	missense	probably benign	0.27
R8735:Kndc1	UTSW	7	139,490,130 (GRCm39)	missense	probably benign	0.00
R8816:Kndc1	UTSW	7	139,517,909 (GRCm39)	missense	probably damaging	1.00
R8883:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R8899:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139,503,976 (GRCm39)	missense	possibly damaging	0.95
R9002:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R9010:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R9065:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R9066:Kndc1	UTSW	7	139,507,708 (GRCm39)	missense	possibly damaging	0.89
R9223:Kndc1	UTSW	7	139,501,357 (GRCm39)	missense	possibly damaging	0.89
R9230:Kndc1	UTSW	7	139,500,600 (GRCm39)	missense	probably damaging	1.00
R9291:Kndc1	UTSW	7	139,475,140 (GRCm39)	missense	possibly damaging	0.55
R9441:Kndc1	UTSW	7	139,501,392 (GRCm39)	missense	probably damaging	0.99
R9476:Kndc1	UTSW	7	139,510,031 (GRCm39)	missense	probably benign	0.00
R9510:Kndc1	UTSW	7	139,510,031 (GRCm39)	missense	probably benign	0.00
R9518:Kndc1	UTSW	7	139,519,827 (GRCm39)	missense	probably damaging	1.00
R9758:Kndc1	UTSW	7	139,500,620 (GRCm39)	missense	possibly damaging	0.71
Z1177:Kndc1	UTSW	7	139,501,828 (GRCm39)	missense	possibly damaging	0.63
Z1186:Kndc1	UTSW	7	139,490,729 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-12-03