Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Kndc1'

481945

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

044170-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139927420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1173 (V1173E)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably damaging
Transcript: ENSMUST00000053445
AA Change: V1173E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: V1173E

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

Meta Mutation Damage Score

0.3078

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289 (GRCm38)	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405 (GRCm38)	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736 (GRCm38)	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921 (GRCm38)	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697 (GRCm38)	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895 (GRCm38)		probably benign	Het
AW209491	C	T	13: 14,637,780 (GRCm38)	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182 (GRCm38)	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166 (GRCm38)	163	probably null	Het
Cmtr1	T	C	17: 29,702,161 (GRCm38)	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325 (GRCm38)	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456 (GRCm38)	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541 (GRCm38)	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055 (GRCm38)	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769 (GRCm38)	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798 (GRCm38)	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960 (GRCm38)	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421 (GRCm38)	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677 (GRCm38)	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930 (GRCm38)	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592 (GRCm38)	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373 (GRCm38)	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624 (GRCm38)	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328 (GRCm38)	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726 (GRCm38)	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368 (GRCm38)	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910 (GRCm38)	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707 (GRCm38)	T12A	probably benign	Het
Kprp	T	C	3: 92,824,774 (GRCm38)	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607 (GRCm38)		probably benign	Het
Lrrc37a	A	G	11: 103,500,958 (GRCm38)	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588 (GRCm38)	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243 (GRCm38)	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161 (GRCm38)	C1615R	unknown	Het
Nans	A	T	4: 46,489,441 (GRCm38)	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491 (GRCm38)	S207L	possibly damaging	Het
Nrdc	T	G	4: 109,019,071 (GRCm38)	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016 (GRCm38)		probably benign	Het
Nufip1	C	T	14: 76,114,188 (GRCm38)	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114 (GRCm38)	H114Y	possibly damaging	Het
Opa1	T	A	16: 29,587,018 (GRCm38)	W134R	probably damaging	Het
Or4k45	T	A	2: 111,564,674 (GRCm38)	I257F	probably damaging	Het
Or8a1b	G	T	9: 37,712,110 (GRCm38)	H56Q	probably damaging	Het
Parp14	G	A	16: 35,841,457 (GRCm38)	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484 (GRCm38)	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266 (GRCm38)	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603 (GRCm38)	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926 (GRCm38)	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144 (GRCm38)	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155 (GRCm38)	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320 (GRCm38)		probably null	Het
Ppp1r9a	C	A	6: 5,134,660 (GRCm38)	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113 (GRCm38)	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412 (GRCm38)	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594 (GRCm38)	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811 (GRCm38)	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330 (GRCm38)	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369 (GRCm38)	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397 (GRCm38)	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623 (GRCm38)	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335 (GRCm38)	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381 (GRCm38)	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758 (GRCm38)	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250 (GRCm38)	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933 (GRCm38)	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144 (GRCm38)	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529 (GRCm38)	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442 (GRCm38)	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481 (GRCm38)	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459 (GRCm38)	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367 (GRCm38)	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234 (GRCm38)	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810 (GRCm38)	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511 (GRCm38)	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868 (GRCm38)	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184 (GRCm38)	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659 (GRCm38)	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348 (GRCm38)	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263 (GRCm38)	A104T	probably 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
IGL02133:Kndc1	APN	7	139,920,767 (GRCm38)	missense	probably benign	0.19
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
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

Predicted Primers

PCR Primer
(F):5'- GACCCTGAAGTTTTACCAGAAAC -3'
(R):5'- TTTGCTATTGACCCAGGGATG -3'

Sequencing Primer
(F):5'- GTTTTACCAGAAACTCTTACAGAAGG -3'
(R):5'- CTATTGACCCAGGGATGGCAGG -3'

Posted On

2017-06-26