Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Kndc1'

704282

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139895224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000113856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053445] [ENSMUST00000121839]

AlphaFold

Q0KK55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053445
AA Change: E13G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: E13G

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

possibly damaging
Transcript: ENSMUST00000121839
AA Change: E13G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113856
Gene: ENSMUSG00000066129
AA Change: E13G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,703	N551S	probably benign	Het
Abcg5	C	A	17: 84,668,952	V486L	probably benign	Het
Acoxl	T	A	2: 127,972,573	I303N	probably damaging	Het
Atp6v1h	G	T	1: 5,150,061	W464L	probably null	Het
Cdcp2	A	G	4: 107,106,856	D301G	probably damaging	Het
Cenpv	T	C	11: 62,538,862	D115G	probably benign	Het
Cnfn	T	C	7: 25,368,051	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,224,302	I76L	probably damaging	Het
Crb2	G	A	2: 37,792,201	V865I	probably damaging	Het
Ctf1	T	A	7: 127,717,032	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,187,387	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,973,493	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,191,161	T223A	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,725,125	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,447,953	I170T	probably damaging	Het
Ehd4	G	T	2: 120,091,274	D500E	probably damaging	Het
Elac2	T	C	11: 64,992,316	I388T	probably damaging	Het
Entpd6	G	A	2: 150,767,039	V348M	probably benign	Het
Epg5	T	A	18: 78,012,850	C1746*	probably null	Het
Exosc2	G	T	2: 31,670,859	M40I	probably benign	Het
Fam193a	T	C	5: 34,436,491	Y27H	probably damaging	Het
Gm13084	A	T	4: 143,812,681	Y81N	probably benign	Het
Gm8005	A	G	14: 42,436,928	F148L		Het
Hectd4	T	C	5: 121,348,965	V3341A	probably benign	Het
Hecw1	A	G	13: 14,316,937	V77A	probably benign	Het
Irf2bp1	T	A	7: 19,004,533	C33S	probably damaging	Het
Kank4	A	T	4: 98,778,451	H586Q	probably benign	Het
Kcnu1	A	G	8: 25,900,013	N619S	probably benign	Het
Lrp2	A	T	2: 69,480,035	D2731E	probably damaging	Het
Lyst	A	G	13: 13,709,353	N2942S	probably benign	Het
Maml3	G	A	3: 51,856,907	T212M	probably benign	Het
Mill2	T	C	7: 18,841,491	V41A	probably benign	Het
Moxd2	C	A	6: 40,880,428	C466F	probably damaging	Het
Nefh	A	G	11: 4,940,871	S583P	probably benign	Het
Nlrp9b	T	A	7: 20,024,586	S583T	possibly damaging	Het
Nup214	T	G	2: 31,977,794	M91R	probably benign	Het
Olfr1055	A	T	2: 86,347,424	I114N	probably benign	Het
Olfr1226	A	C	2: 89,193,794	M80R	possibly damaging	Het
Olfr776	T	C	10: 129,261,333	I124T	probably damaging	Het
Otud4	A	G	8: 79,646,323	Y90C	probably damaging	Het
Papln	C	A	12: 83,778,510	T575N	probably benign	Het
Pkhd1l1	T	A	15: 44,569,976	N3417K	probably damaging	Het
Pop7	A	G	5: 137,501,649	*141Q	probably null	Het
Rchy1	A	G	5: 91,951,906	L191S	possibly damaging	Het
Rims1	T	C	1: 22,397,522	D296G		Het
Sftpb	T	A	6: 72,309,897	C261*	probably null	Het
Sgcd	C	T	11: 46,979,339	C265Y	probably damaging	Het
Slc44a5	G	A	3: 154,256,581	V384M	possibly damaging	Het
Slx4ip	T	A	2: 137,046,796	N132K	probably benign	Het
Sspo	C	T	6: 48,496,396	T4861M	probably damaging	Het
Swt1	T	A	1: 151,410,943	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,261,121	D903G	probably damaging	Het
Tbx18	A	T	9: 87,729,482	M165K	probably damaging	Het
Tmem25	T	C	9: 44,795,502	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,262,730	I140M	probably benign	Het
Trak2	A	G	1: 58,903,899	S783P	probably damaging	Het
Trpv4	G	A	5: 114,630,007	T534M	probably benign	Het
Ttc6	G	T	12: 57,575,944	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,244,705	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,776,761	Y165C	probably benign	Het
Vps13b	C	A	15: 35,846,913	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,647,962	F102S	probably benign	Het
Zyg11b	A	G	4: 108,250,817	M464T	probably benign	Het

Other mutations in Kndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Kndc1	APN	7	139901988	splice site	probably benign
IGL01061:Kndc1	APN	7	139922694	missense	probably benign	0.00
IGL01099:Kndc1	APN	7	139920784	missense	probably damaging	1.00
IGL01522:Kndc1	APN	7	139913972	splice site	probably benign
IGL01767:Kndc1	APN	7	139930046	missense	probably damaging	1.00
IGL01884:Kndc1	APN	7	139914194	missense	probably damaging	1.00
IGL01932:Kndc1	APN	7	139923790	missense	probably damaging	0.98
IGL02133:Kndc1	APN	7	139920767	missense	probably benign	0.19
IGL02411:Kndc1	APN	7	139921913	critical splice donor site	probably null
IGL02472:Kndc1	APN	7	139910901	missense	probably benign	0.01
IGL02537:Kndc1	APN	7	139910410	missense	probably benign	0.01
IGL02708:Kndc1	APN	7	139901181	missense	probably damaging	1.00
IGL03115:Kndc1	APN	7	139921509	missense	probably benign	0.28
IGL03160:Kndc1	APN	7	139920689	nonsense	probably null
IGL03138:Kndc1	UTSW	7	139939878	missense	possibly damaging	0.89
PIT4142001:Kndc1	UTSW	7	139923776	frame shift	probably null
PIT4696001:Kndc1	UTSW	7	139932917	missense	probably damaging	1.00
R0349:Kndc1	UTSW	7	139910304	missense	probably benign	0.00
R0384:Kndc1	UTSW	7	139910599	missense	possibly damaging	0.85
R0415:Kndc1	UTSW	7	139930124	missense	probably damaging	1.00
R0421:Kndc1	UTSW	7	139908996	missense	probably damaging	1.00
R0487:Kndc1	UTSW	7	139914023	missense	probably null	0.19
R0530:Kndc1	UTSW	7	139901237	missense	probably damaging	1.00
R0905:Kndc1	UTSW	7	139923735	missense	possibly damaging	0.94
R1434:Kndc1	UTSW	7	139922684	missense	probably damaging	1.00
R1608:Kndc1	UTSW	7	139927408	missense	possibly damaging	0.80
R1644:Kndc1	UTSW	7	139930756	missense	probably damaging	1.00
R1835:Kndc1	UTSW	7	139927711	missense	probably damaging	0.99
R2012:Kndc1	UTSW	7	139921280	missense	possibly damaging	0.90
R2102:Kndc1	UTSW	7	139930761	missense	probably benign	0.02
R2103:Kndc1	UTSW	7	139921234	missense	probably benign	0.01
R2128:Kndc1	UTSW	7	139930112	missense	probably damaging	1.00
R2516:Kndc1	UTSW	7	139921822	missense	probably damaging	1.00
R3030:Kndc1	UTSW	7	139901207	missense	probably damaging	1.00
R3617:Kndc1	UTSW	7	139902060	splice site	probably benign
R3747:Kndc1	UTSW	7	139927904	critical splice donor site	probably null
R3848:Kndc1	UTSW	7	139908977	missense	probably damaging	1.00
R4028:Kndc1	UTSW	7	139930028	missense	probably damaging	0.98
R4043:Kndc1	UTSW	7	139924129	missense	probably benign	0.06
R4044:Kndc1	UTSW	7	139924129	missense	probably benign	0.06
R4095:Kndc1	UTSW	7	139937025	missense	possibly damaging	0.49
R4289:Kndc1	UTSW	7	139910882	missense	probably benign	0.01
R4478:Kndc1	UTSW	7	139920684	missense	probably damaging	1.00
R4514:Kndc1	UTSW	7	139910286	missense	probably benign	0.00
R4540:Kndc1	UTSW	7	139921427	nonsense	probably null
R4584:Kndc1	UTSW	7	139901243	missense	probably damaging	1.00
R4693:Kndc1	UTSW	7	139921779	missense	probably benign	0.02
R4705:Kndc1	UTSW	7	139930123	missense	possibly damaging	0.81
R4773:Kndc1	UTSW	7	139924031	nonsense	probably null
R4859:Kndc1	UTSW	7	139921905	missense	probably benign	0.03
R5004:Kndc1	UTSW	7	139932879	nonsense	probably null
R5037:Kndc1	UTSW	7	139910455	missense	possibly damaging	0.52
R5322:Kndc1	UTSW	7	139936809	missense	probably damaging	1.00
R5428:Kndc1	UTSW	7	139908962	missense	probably damaging	0.99
R5503:Kndc1	UTSW	7	139931889	missense	probably damaging	1.00
R5506:Kndc1	UTSW	7	139927891	missense	probably damaging	1.00
R5525:Kndc1	UTSW	7	139924111	missense	probably benign	0.00
R5888:Kndc1	UTSW	7	139895217	missense	probably benign	0.00
R5942:Kndc1	UTSW	7	139936879	missense	probably damaging	1.00
R5979:Kndc1	UTSW	7	139939827	missense	probably benign	0.05
R5990:Kndc1	UTSW	7	139927420	missense	probably damaging	0.99
R6038:Kndc1	UTSW	7	139923775	frame shift	probably null
R6076:Kndc1	UTSW	7	139902038	missense	probably damaging	1.00
R6118:Kndc1	UTSW	7	139923802	missense	probably damaging	1.00
R6151:Kndc1	UTSW	7	139921213	missense	probably benign	0.04
R6276:Kndc1	UTSW	7	139921063	missense	probably benign
R6367:Kndc1	UTSW	7	139913506	missense	probably damaging	1.00
R6726:Kndc1	UTSW	7	139922751	critical splice donor site	probably null
R6745:Kndc1	UTSW	7	139920976	missense	probably benign	0.02
R6886:Kndc1	UTSW	7	139913569	missense	probably benign	0.01
R6912:Kndc1	UTSW	7	139910278	missense	probably damaging	0.99
R7070:Kndc1	UTSW	7	139921828	missense	probably damaging	1.00
R7123:Kndc1	UTSW	7	139936836	missense	probably damaging	0.99
R7158:Kndc1	UTSW	7	139931860	missense	possibly damaging	0.48
R7248:Kndc1	UTSW	7	139920783	missense	probably damaging	1.00
R7437:Kndc1	UTSW	7	139909043	missense	probably damaging	1.00
R7564:Kndc1	UTSW	7	139920696	missense	probably benign	0.01
R7570:Kndc1	UTSW	7	139923775	frame shift	probably null
R7625:Kndc1	UTSW	7	139938017	missense	possibly damaging	0.90
R7629:Kndc1	UTSW	7	139895260	missense	probably damaging	1.00
R7726:Kndc1	UTSW	7	139939838	missense	possibly damaging	0.67
R7840:Kndc1	UTSW	7	139923816	missense	probably damaging	1.00
R7859:Kndc1	UTSW	7	139920964	missense	possibly damaging	0.57
R7934:Kndc1	UTSW	7	139921486	missense	probably benign	0.02
R8011:Kndc1	UTSW	7	139910620	missense	possibly damaging	0.90
R8062:Kndc1	UTSW	7	139918844	missense	probably benign	0.01
R8134:Kndc1	UTSW	7	139901369	splice site	probably null
R8197:Kndc1	UTSW	7	139913531	missense	probably damaging	1.00
R8350:Kndc1	UTSW	7	139924045	missense	probably damaging	1.00
R8399:Kndc1	UTSW	7	139913518	missense	probably damaging	1.00
R8400:Kndc1	UTSW	7	139913518	missense	probably damaging	1.00
R8447:Kndc1	UTSW	7	139901205	missense	probably damaging	1.00
R8534:Kndc1	UTSW	7	139923753	missense	probably benign	0.27
R8735:Kndc1	UTSW	7	139910214	missense	probably benign	0.00
R8816:Kndc1	UTSW	7	139937996	missense	probably damaging	1.00
R8883:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R8899:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139924061	missense	possibly damaging	0.95
R8961:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9002:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9010:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9065:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9066:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9223:Kndc1	UTSW	7	139921441	missense	possibly damaging	0.89
R9230:Kndc1	UTSW	7	139920684	missense	probably damaging	1.00
R9441:Kndc1	UTSW	7	139921476	missense	probably damaging	0.99
R9476:Kndc1	UTSW	7	139930118	missense	probably benign	0.00
R9510:Kndc1	UTSW	7	139930118	missense	probably benign	0.00
R9518:Kndc1	UTSW	7	139939914	missense	probably damaging	1.00
R9758:Kndc1	UTSW	7	139920704	missense	possibly damaging	0.71
Z1177:Kndc1	UTSW	7	139921912	missense	possibly damaging	0.63
Z1186:Kndc1	UTSW	7	139910813	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGTAGTTGAAGACATCTGCGGAG -3'
(R):5'- TGCTACTATGAGGGGCCAGAATC -3'

Sequencing Primer
(F):5'- ACCGTTTGGCGACACTG -3'
(R):5'- CTACTATGAGGGGCCAGAATCTATGC -3'

Posted On

2022-03-25