Mutagenetix > Incidental Mutation

Incidental Mutation 'R4044:Kndc1'

313987

Institutional Source

Beutler Lab

Gene Symbol

Kndc1

Ensembl Gene

ENSMUSG00000066129

Gene Name

kinase non-catalytic C-lobe domain (KIND) containing 1

Synonyms

B830014K08Rik, VKIND, very-kind, 2410012C07Rik

MMRRC Submission

040967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139474612-139521450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139504044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1116 (E1116G)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably benign
Transcript: ENSMUST00000053445
AA Change: E1116G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: E1116G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	A	9: 89,044,347 (GRCm39)		noncoding transcript	Het
Ada	A	T	2: 163,577,380 (GRCm39)	I36N	probably damaging	Het
Armh3	A	T	19: 45,808,763 (GRCm39)	Y643N	probably damaging	Het
Atg7	T	C	6: 114,678,939 (GRCm39)	V384A	probably benign	Het
Ccl1	T	A	11: 82,070,519 (GRCm39)	I18L	probably benign	Het
Cep70	T	A	9: 99,144,662 (GRCm39)	C66S	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,894 (GRCm39)	D14E	probably damaging	Het
Dnah9	T	C	11: 66,024,461 (GRCm39)	K278E	probably benign	Het
Dsg1a	C	A	18: 20,457,087 (GRCm39)	N153K	probably damaging	Het
Galnt5	T	A	2: 57,888,472 (GRCm39)	I24N	probably damaging	Het
Grid1	A	T	14: 35,172,358 (GRCm39)		probably benign	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Igf1r	A	G	7: 67,839,810 (GRCm39)	T706A	possibly damaging	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Jam3	C	A	9: 27,013,159 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Klk1b4	A	G	7: 43,860,179 (GRCm39)	M98V	probably benign	Het
Ksr2	C	T	5: 117,693,127 (GRCm39)	R192*	probably null	Het
L3mbtl4	T	C	17: 69,084,909 (GRCm39)	S607P	possibly damaging	Het
Map6	T	C	7: 98,917,256 (GRCm39)	C10R	probably damaging	Het
Myo3a	A	G	2: 22,467,712 (GRCm39)	E322G	probably damaging	Het
Nell1	A	G	7: 49,869,367 (GRCm39)	N214S	probably damaging	Het
Npm3	T	C	19: 45,736,692 (GRCm39)	E149G	possibly damaging	Het
Or4k35	C	T	2: 111,099,927 (GRCm39)	V262I	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Orc3	G	A	4: 34,587,055 (GRCm39)	Q345*	probably null	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pals1	G	A	12: 78,871,613 (GRCm39)	E398K	probably benign	Het
Pramel26	T	A	4: 143,538,170 (GRCm39)	N267I	probably benign	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Reln	A	T	5: 22,333,630 (GRCm39)	V264D	possibly damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Scaf1	G	A	7: 44,655,798 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,040,475 (GRCm39)	T890A	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Thada	A	G	17: 84,749,135 (GRCm39)	V612A	probably benign	Het
Tsnaxip1	G	A	8: 106,560,177 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vrtn	T	C	12: 84,695,844 (GRCm39)	I198T	probably damaging	Het
Wnt9b	T	C	11: 103,622,824 (GRCm39)	D193G	probably damaging	Het
Znrd2	T	C	19: 5,780,431 (GRCm39)	E189G	probably damaging	Het
Zswim5	A	G	4: 116,843,899 (GRCm39)	D979G	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTAGATCTGAGGACGGTG -3'
(R):5'- AGAAAAGTCACTCCTTGCTTCCC -3'

Sequencing Primer
(F):5'- TGAGGACGGTGGCCCAG -3'
(R):5'- TGTGCCCACATTGTAGAACATC -3'

Posted On

2015-04-30