Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Kndc1'

281073

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, 2410012C07Rik, very-kind, VKIND

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139920767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 683 (T683A)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably benign
Transcript: ENSMUST00000053445
AA Change: T683A

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: T683A

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967 (GRCm38)	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510 (GRCm38)	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029 (GRCm38)	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335 (GRCm38)	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677 (GRCm38)	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090 (GRCm38)	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673 (GRCm38)		probably benign	Het
Col20a1	C	T	2: 181,007,144 (GRCm38)	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942 (GRCm38)	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241 (GRCm38)	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703 (GRCm38)	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475 (GRCm38)	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946 (GRCm38)	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443 (GRCm38)	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737 (GRCm38)	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911 (GRCm38)	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587 (GRCm38)	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134 (GRCm38)	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732 (GRCm38)		probably benign	Het
Ldhb	A	T	6: 142,492,500 (GRCm38)	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076 (GRCm38)	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546 (GRCm38)	F571L	probably benign	Het
Neb	G	T	2: 52,212,804 (GRCm38)		probably null	Het
Nrxn1	A	G	17: 90,643,243 (GRCm38)	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931 (GRCm38)	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699 (GRCm38)	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516 (GRCm38)	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396 (GRCm38)	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911 (GRCm38)	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343 (GRCm38)	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557 (GRCm38)		probably null	Het
Wls	A	G	3: 159,897,370 (GRCm38)	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498 (GRCm38)	S28P	possibly damaging	Het

Other mutations in Kndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Kndc1	APN	7	139,901,988 (GRCm38)	splice site	probably benign
IGL01061:Kndc1	APN	7	139,922,694 (GRCm38)	missense	probably benign	0.00
IGL01099:Kndc1	APN	7	139,920,784 (GRCm38)	missense	probably damaging	1.00
IGL01522:Kndc1	APN	7	139,913,972 (GRCm38)	splice site	probably benign
IGL01767:Kndc1	APN	7	139,930,046 (GRCm38)	missense	probably damaging	1.00
IGL01884:Kndc1	APN	7	139,914,194 (GRCm38)	missense	probably damaging	1.00
IGL01932:Kndc1	APN	7	139,923,790 (GRCm38)	missense	probably damaging	0.98
IGL02411:Kndc1	APN	7	139,921,913 (GRCm38)	critical splice donor site	probably null
IGL02472:Kndc1	APN	7	139,910,901 (GRCm38)	missense	probably benign	0.01
IGL02537:Kndc1	APN	7	139,910,410 (GRCm38)	missense	probably benign	0.01
IGL02708:Kndc1	APN	7	139,901,181 (GRCm38)	missense	probably damaging	1.00
IGL03115:Kndc1	APN	7	139,921,509 (GRCm38)	missense	probably benign	0.28
IGL03160:Kndc1	APN	7	139,920,689 (GRCm38)	nonsense	probably null
IGL03138:Kndc1	UTSW	7	139,939,878 (GRCm38)	missense	possibly damaging	0.89
PIT4142001:Kndc1	UTSW	7	139,923,776 (GRCm38)	frame shift	probably null
PIT4696001:Kndc1	UTSW	7	139,932,917 (GRCm38)	missense	probably damaging	1.00
R0349:Kndc1	UTSW	7	139,910,304 (GRCm38)	missense	probably benign	0.00
R0384:Kndc1	UTSW	7	139,910,599 (GRCm38)	missense	possibly damaging	0.85
R0415:Kndc1	UTSW	7	139,930,124 (GRCm38)	missense	probably damaging	1.00
R0421:Kndc1	UTSW	7	139,908,996 (GRCm38)	missense	probably damaging	1.00
R0487:Kndc1	UTSW	7	139,914,023 (GRCm38)	missense	probably null	0.19
R0530:Kndc1	UTSW	7	139,901,237 (GRCm38)	missense	probably damaging	1.00
R0905:Kndc1	UTSW	7	139,923,735 (GRCm38)	missense	possibly damaging	0.94
R1434:Kndc1	UTSW	7	139,922,684 (GRCm38)	missense	probably damaging	1.00
R1608:Kndc1	UTSW	7	139,927,408 (GRCm38)	missense	possibly damaging	0.80
R1644:Kndc1	UTSW	7	139,930,756 (GRCm38)	missense	probably damaging	1.00
R1835:Kndc1	UTSW	7	139,927,711 (GRCm38)	missense	probably damaging	0.99
R2012:Kndc1	UTSW	7	139,921,280 (GRCm38)	missense	possibly damaging	0.90
R2102:Kndc1	UTSW	7	139,930,761 (GRCm38)	missense	probably benign	0.02
R2103:Kndc1	UTSW	7	139,921,234 (GRCm38)	missense	probably benign	0.01
R2128:Kndc1	UTSW	7	139,930,112 (GRCm38)	missense	probably damaging	1.00
R2516:Kndc1	UTSW	7	139,921,822 (GRCm38)	missense	probably damaging	1.00
R3030:Kndc1	UTSW	7	139,901,207 (GRCm38)	missense	probably damaging	1.00
R3617:Kndc1	UTSW	7	139,902,060 (GRCm38)	splice site	probably benign
R3747:Kndc1	UTSW	7	139,927,904 (GRCm38)	critical splice donor site	probably null
R3848:Kndc1	UTSW	7	139,908,977 (GRCm38)	missense	probably damaging	1.00
R4028:Kndc1	UTSW	7	139,930,028 (GRCm38)	missense	probably damaging	0.98
R4043:Kndc1	UTSW	7	139,924,129 (GRCm38)	missense	probably benign	0.06
R4044:Kndc1	UTSW	7	139,924,129 (GRCm38)	missense	probably benign	0.06
R4095:Kndc1	UTSW	7	139,937,025 (GRCm38)	missense	possibly damaging	0.49
R4289:Kndc1	UTSW	7	139,910,882 (GRCm38)	missense	probably benign	0.01
R4478:Kndc1	UTSW	7	139,920,684 (GRCm38)	missense	probably damaging	1.00
R4514:Kndc1	UTSW	7	139,910,286 (GRCm38)	missense	probably benign	0.00
R4540:Kndc1	UTSW	7	139,921,427 (GRCm38)	nonsense	probably null
R4584:Kndc1	UTSW	7	139,901,243 (GRCm38)	missense	probably damaging	1.00
R4693:Kndc1	UTSW	7	139,921,779 (GRCm38)	missense	probably benign	0.02
R4705:Kndc1	UTSW	7	139,930,123 (GRCm38)	missense	possibly damaging	0.81
R4773:Kndc1	UTSW	7	139,924,031 (GRCm38)	nonsense	probably null
R4859:Kndc1	UTSW	7	139,921,905 (GRCm38)	missense	probably benign	0.03
R5004:Kndc1	UTSW	7	139,932,879 (GRCm38)	nonsense	probably null
R5037:Kndc1	UTSW	7	139,910,455 (GRCm38)	missense	possibly damaging	0.52
R5322:Kndc1	UTSW	7	139,936,809 (GRCm38)	missense	probably damaging	1.00
R5428:Kndc1	UTSW	7	139,908,962 (GRCm38)	missense	probably damaging	0.99
R5503:Kndc1	UTSW	7	139,931,889 (GRCm38)	missense	probably damaging	1.00
R5506:Kndc1	UTSW	7	139,927,891 (GRCm38)	missense	probably damaging	1.00
R5525:Kndc1	UTSW	7	139,924,111 (GRCm38)	missense	probably benign	0.00
R5888:Kndc1	UTSW	7	139,895,217 (GRCm38)	missense	probably benign	0.00
R5942:Kndc1	UTSW	7	139,936,879 (GRCm38)	missense	probably damaging	1.00
R5979:Kndc1	UTSW	7	139,939,827 (GRCm38)	missense	probably benign	0.05
R5990:Kndc1	UTSW	7	139,927,420 (GRCm38)	missense	probably damaging	0.99
R6038:Kndc1	UTSW	7	139,923,775 (GRCm38)	frame shift	probably null
R6076:Kndc1	UTSW	7	139,902,038 (GRCm38)	missense	probably damaging	1.00
R6118:Kndc1	UTSW	7	139,923,802 (GRCm38)	missense	probably damaging	1.00
R6151:Kndc1	UTSW	7	139,921,213 (GRCm38)	missense	probably benign	0.04
R6276:Kndc1	UTSW	7	139,921,063 (GRCm38)	missense	probably benign
R6367:Kndc1	UTSW	7	139,913,506 (GRCm38)	missense	probably damaging	1.00
R6726:Kndc1	UTSW	7	139,922,751 (GRCm38)	critical splice donor site	probably null
R6745:Kndc1	UTSW	7	139,920,976 (GRCm38)	missense	probably benign	0.02
R6886:Kndc1	UTSW	7	139,913,569 (GRCm38)	missense	probably benign	0.01
R6912:Kndc1	UTSW	7	139,910,278 (GRCm38)	missense	probably damaging	0.99
R7070:Kndc1	UTSW	7	139,921,828 (GRCm38)	missense	probably damaging	1.00
R7123:Kndc1	UTSW	7	139,936,836 (GRCm38)	missense	probably damaging	0.99
R7158:Kndc1	UTSW	7	139,931,860 (GRCm38)	missense	possibly damaging	0.48
R7248:Kndc1	UTSW	7	139,920,783 (GRCm38)	missense	probably damaging	1.00
R7437:Kndc1	UTSW	7	139,909,043 (GRCm38)	missense	probably damaging	1.00
R7564:Kndc1	UTSW	7	139,920,696 (GRCm38)	missense	probably benign	0.01
R7570:Kndc1	UTSW	7	139,923,775 (GRCm38)	frame shift	probably null
R7625:Kndc1	UTSW	7	139,938,017 (GRCm38)	missense	possibly damaging	0.90
R7629:Kndc1	UTSW	7	139,895,260 (GRCm38)	missense	probably damaging	1.00
R7726:Kndc1	UTSW	7	139,939,838 (GRCm38)	missense	possibly damaging	0.67
R7840:Kndc1	UTSW	7	139,923,816 (GRCm38)	missense	probably damaging	1.00
R7859:Kndc1	UTSW	7	139,920,964 (GRCm38)	missense	possibly damaging	0.57
R7934:Kndc1	UTSW	7	139,921,486 (GRCm38)	missense	probably benign	0.02
R8011:Kndc1	UTSW	7	139,910,620 (GRCm38)	missense	possibly damaging	0.90
R8062:Kndc1	UTSW	7	139,918,844 (GRCm38)	missense	probably benign	0.01
R8134:Kndc1	UTSW	7	139,901,369 (GRCm38)	splice site	probably null
R8197:Kndc1	UTSW	7	139,913,531 (GRCm38)	missense	probably damaging	1.00
R8350:Kndc1	UTSW	7	139,924,045 (GRCm38)	missense	probably damaging	1.00
R8399:Kndc1	UTSW	7	139,913,518 (GRCm38)	missense	probably damaging	1.00
R8400:Kndc1	UTSW	7	139,913,518 (GRCm38)	missense	probably damaging	1.00
R8447:Kndc1	UTSW	7	139,901,205 (GRCm38)	missense	probably damaging	1.00
R8534:Kndc1	UTSW	7	139,923,753 (GRCm38)	missense	probably benign	0.27
R8735:Kndc1	UTSW	7	139,910,214 (GRCm38)	missense	probably benign	0.00
R8816:Kndc1	UTSW	7	139,937,996 (GRCm38)	missense	probably damaging	1.00
R8883:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R8899:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139,924,061 (GRCm38)	missense	possibly damaging	0.95
R9002:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R9010:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R9065:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R9066:Kndc1	UTSW	7	139,927,795 (GRCm38)	missense	possibly damaging	0.89
R9223:Kndc1	UTSW	7	139,921,441 (GRCm38)	missense	possibly damaging	0.89
R9230:Kndc1	UTSW	7	139,920,684 (GRCm38)	missense	probably damaging	1.00
R9291:Kndc1	UTSW	7	139,895,224 (GRCm38)	missense	possibly damaging	0.55
R9441:Kndc1	UTSW	7	139,921,476 (GRCm38)	missense	probably damaging	0.99
R9476:Kndc1	UTSW	7	139,930,118 (GRCm38)	missense	probably benign	0.00
R9510:Kndc1	UTSW	7	139,930,118 (GRCm38)	missense	probably benign	0.00
R9518:Kndc1	UTSW	7	139,939,914 (GRCm38)	missense	probably damaging	1.00
R9758:Kndc1	UTSW	7	139,920,704 (GRCm38)	missense	possibly damaging	0.71
Z1177:Kndc1	UTSW	7	139,921,912 (GRCm38)	missense	possibly damaging	0.63
Z1186:Kndc1	UTSW	7	139,910,813 (GRCm38)	missense	probably damaging	0.98

Posted On

2015-04-16