Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:Kndc1'

332352

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 #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

139474612-139521450 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 139481904 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,849,525 (GRCm39)	H632Y	probably damaging	Het
Adgre5	T	A	8: 84,455,030 (GRCm39)	M221L	probably benign	Het
Apba2	A	T	7: 64,386,689 (GRCm39)	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,371,559 (GRCm39)	N632K	probably damaging	Het
Bcas3	A	T	11: 85,256,417 (GRCm39)	I60L	probably damaging	Het
Brd9	T	C	13: 74,086,666 (GRCm39)	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,751,295 (GRCm39)	D925V	possibly damaging	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,102,208 (GRCm39)	T410A	probably benign	Het
Cimap3	A	G	3: 105,921,824 (GRCm39)	V33A	probably benign	Het
Ddx60	G	T	8: 62,411,680 (GRCm39)	D511Y	probably damaging	Het
Drc7	C	A	8: 95,782,629 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,118,933 (GRCm39)	E1290G	probably benign	Het
Fam168b	T	C	1: 34,875,883 (GRCm39)	M1V	probably null	Het
Farsa	A	G	8: 85,590,886 (GRCm39)	K208R	probably damaging	Het
Fnip2	A	G	3: 79,425,368 (GRCm39)		probably benign	Het
Gm17535	A	T	9: 3,035,111 (GRCm39)	H170L	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gm5852	T	C	3: 93,634,501 (GRCm39)		noncoding transcript	Het
Gnb2	T	C	5: 137,528,968 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,373,494 (GRCm39)	N143S	probably damaging	Het
Hcn1	C	A	13: 117,739,513 (GRCm39)	Q92K	unknown	Het
Helb	T	C	10: 119,934,150 (GRCm39)	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,512,798 (GRCm39)	A118D	probably damaging	Het
Klhl14	G	A	18: 21,784,921 (GRCm39)	P169S	probably benign	Het
Lmod2	A	G	6: 24,598,051 (GRCm39)	E57G	probably damaging	Het
Lrch4	T	C	5: 137,636,009 (GRCm39)	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,433,053 (GRCm39)	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,364,630 (GRCm39)		probably benign	Het
Mamstr	G	A	7: 45,293,709 (GRCm39)	V262I	probably benign	Het
Mob1b	A	T	5: 88,904,014 (GRCm39)	T217S	probably benign	Het
Mocs3	G	A	2: 168,073,411 (GRCm39)	R286H	possibly damaging	Het
Mpo	A	T	11: 87,693,443 (GRCm39)	Q27L	probably benign	Het
Ncdn	A	T	4: 126,640,981 (GRCm39)	D506E	probably benign	Het
Noxa1	A	G	2: 24,984,914 (GRCm39)	I8T	probably benign	Het
Oma1	G	T	4: 103,176,565 (GRCm39)	A110S	probably benign	Het
Or10a48	C	T	7: 108,424,280 (GRCm39)	V309I	probably benign	Het
Or13a18	T	A	7: 140,190,666 (GRCm39)	S196T	probably damaging	Het
Or8b4	A	G	9: 37,830,346 (GRCm39)	Y131C	probably damaging	Het
Pde4a	A	C	9: 21,122,357 (GRCm39)	K694T	probably benign	Het
Phc1	A	G	6: 122,299,958 (GRCm39)		probably benign	Het
Pias1	A	G	9: 62,830,578 (GRCm39)	V187A	probably damaging	Het
Pigf	C	A	17: 87,327,876 (GRCm39)	L130F	probably null	Het
Pkd1	G	T	17: 24,799,069 (GRCm39)	V2763L	probably damaging	Het
Potefam1	G	T	2: 111,051,107 (GRCm39)	L230I	probably damaging	Het
Ppp1r8	T	C	4: 132,561,992 (GRCm39)	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,568,324 (GRCm39)	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,698,924 (GRCm39)	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,412,790 (GRCm39)	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,070,185 (GRCm39)	I148F	probably damaging	Het
Stard3	T	C	11: 98,268,285 (GRCm39)	Y239H	probably damaging	Het
Stau1	T	C	2: 166,792,729 (GRCm39)	Y412C	probably benign	Het
Sucnr1	A	G	3: 59,994,053 (GRCm39)	I194V	probably benign	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,101,963 (GRCm39)	T79A	probably benign	Het
Trav9-2	A	T	14: 53,828,840 (GRCm39)	Y70F	probably benign	Het
Tspear	A	G	10: 77,709,070 (GRCm39)	E432G	probably benign	Het
Ube2o	T	C	11: 116,435,580 (GRCm39)	R403G	probably benign	Het
Unc80	C	A	1: 66,645,618 (GRCm39)	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,258,336 (GRCm39)	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,489,652 (GRCm39)	M473L	probably benign	Het
Xpot	T	A	10: 121,441,549 (GRCm39)	M559L	probably benign	Het

Other mutations in Kndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01522:Kndc1	APN	7	139,493,888 (GRCm39)	splice site	probably benign
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

2015-08-05