Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Kndc1'

253795

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

040420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139474612-139521450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139501738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 925 (I925T)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

AlphaFold

Q0KK55

Predicted Effect

probably damaging
Transcript: ENSMUST00000053445
AA Change: I925T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: I925T

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 damaging
Transcript: ENSMUST00000151421
AA Change: I925T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116435
Gene: ENSMUSG00000066129
AA Change: I925T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156941

Meta Mutation Damage Score

0.1838

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Cep104	T	A	4: 154,073,603 (GRCm39)	M52K	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,819,200 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or4k1	T	C	14: 50,377,440 (GRCm39)	I219V	probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Or6c211	G	A	10: 129,506,155 (GRCm39)	R78W	probably damaging	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,870,312 (GRCm39)	I104F	probably benign	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zc3h18	A	T	8: 123,129,904 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GACTCAGGGGATCACACATC -3'
(R):5'- CGACTGTAGGCACTGATCCTAC -3'

Sequencing Primer
(F):5'- GATCACACATCTGTCCTGCTGAGG -3'
(R):5'- AGGCACTGATCCTACAGAGTTTG -3'

Posted On

2014-12-04