Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:Sdk2'

52197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdk2

Ensembl Gene

ENSMUSG00000041592

Gene Name

sidekick cell adhesion molecule 2

Synonyms

5330435L01Rik, 4632412F08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

113776374-114067046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113830842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1316 (V1316A)

Ref Sequence

ENSEMBL: ENSMUSP00000038972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041627]

AlphaFold

Q6V4S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041627
AA Change: V1316A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592
AA Change: V1316A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGc2	43	102	4.67e-4	SMART
IG	123	208	6.07e-3	SMART
IG	225	309	1.4e-7	SMART
IGc2	325	391	6.21e-9	SMART
IGc2	418	486	8.57e-12	SMART
IG	506	591	2.37e-5	SMART
FN3	594	678	1.91e-7	SMART
FN3	694	780	2.42e-9	SMART
FN3	796	884	3.45e-5	SMART
FN3	899	981	2.36e-12	SMART
FN3	997	1084	1.64e-6	SMART
FN3	1101	1188	8.83e-12	SMART
FN3	1204	1289	3.62e-8	SMART
FN3	1305	1388	1.74e-10	SMART
FN3	1404	1489	8.23e-12	SMART
FN3	1506	1612	3.62e-8	SMART
FN3	1628	1713	1.15e-10	SMART
FN3	1728	1815	2.17e-11	SMART
FN3	1829	1913	5.04e-7	SMART
transmembrane domain	1935	1957	N/A	INTRINSIC
low complexity region	2138	2153	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125879

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 member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275 (GRCm38)	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,078,646 (GRCm38)	L61*	probably null	Het
Abca7	T	C	10: 80,011,297 (GRCm38)	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,061,328 (GRCm38)	I393F	probably damaging	Het
Adamts5	A	G	16: 85,899,834 (GRCm38)	L145P	probably damaging	Het
Ano6	T	C	15: 95,948,429 (GRCm38)	I537T	probably damaging	Het
AU018091	T	C	7: 3,162,313 (GRCm38)	I190V	possibly damaging	Het
Camk1	T	A	6: 113,338,372 (GRCm38)	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,495 (GRCm38)	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,181,788 (GRCm38)	D537G	probably benign	Het
Col6a3	T	C	1: 90,802,332 (GRCm38)	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,372,181 (GRCm38)	E71D	probably benign	Het
Cps1	T	C	1: 67,195,166 (GRCm38)	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,904,210 (GRCm38)	F700I	probably damaging	Het
Dmp1	G	A	5: 104,207,099 (GRCm38)	M1I	probably null	Het
Efcab6	A	T	15: 84,054,512 (GRCm38)	M1K	probably null	Het
Extl2	A	T	3: 116,027,482 (GRCm38)	H312L	possibly damaging	Het
Fat4	C	A	3: 38,890,579 (GRCm38)	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518 (GRCm38)		probably benign	Het
Hdac10	G	T	15: 89,123,868 (GRCm38)	A593E	possibly damaging	Het
Hdhd2	T	C	18: 76,965,273 (GRCm38)		probably null	Het
Kcnq2	A	G	2: 181,109,789 (GRCm38)		probably benign	Het
Kdm7a	A	G	6: 39,165,130 (GRCm38)	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,943,630 (GRCm38)		probably benign	Het
Mki67	A	T	7: 135,694,922 (GRCm38)	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,266,326 (GRCm38)	F40I	probably damaging	Het
Olfr131	G	T	17: 38,082,653 (GRCm38)	S108R	possibly damaging	Het
Olfr213	T	A	6: 116,541,007 (GRCm38)	C185S	probably damaging	Het
Olfr476	A	T	7: 107,967,534 (GRCm38)	I46F	probably damaging	Het
Olfr986	A	T	9: 40,187,756 (GRCm38)	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,474,322 (GRCm38)	V322L	probably benign	Het
Ppfibp1	T	A	6: 147,029,697 (GRCm38)	M917K	probably benign	Het
Prkg2	C	T	5: 98,969,936 (GRCm38)		probably null	Het
Rfx4	A	G	10: 84,868,382 (GRCm38)	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,682,950 (GRCm38)	K292*	probably null	Het
Scamp3	C	A	3: 89,177,666 (GRCm38)		probably benign	Het
Scn4a	A	T	11: 106,330,364 (GRCm38)	I823N	possibly damaging	Het
Setd2	T	C	9: 110,573,673 (GRCm38)	V1794A	probably damaging	Het
Stard8	G	T	X: 99,073,088 (GRCm38)	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,192,675 (GRCm38)	D311E	probably benign	Het
Tex21	T	C	12: 76,198,818 (GRCm38)	H568R	probably benign	Het
Tex35	T	C	1: 157,105,097 (GRCm38)		probably benign	Het
Tgs1	T	A	4: 3,591,292 (GRCm38)	F442I	possibly damaging	Het
Traf2	C	A	2: 25,524,919 (GRCm38)	C303F	probably benign	Het
Trim56	A	T	5: 137,114,500 (GRCm38)	V54D	possibly damaging	Het
Yars2	C	T	16: 16,306,542 (GRCm38)	R338*	probably null	Het
Zfp668	A	T	7: 127,866,282 (GRCm38)	C577S	probably damaging	Het

Other mutations in Sdk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Sdk2	APN	11	113,854,384 (GRCm38)	missense	possibly damaging	0.86
IGL01291:Sdk2	APN	11	113,843,080 (GRCm38)	missense	probably benign
IGL01316:Sdk2	APN	11	113,867,965 (GRCm38)	missense	probably benign	0.09
IGL01614:Sdk2	APN	11	113,793,858 (GRCm38)	missense	probably damaging	1.00
IGL01998:Sdk2	APN	11	113,838,532 (GRCm38)	missense	probably damaging	0.98
IGL02014:Sdk2	APN	11	113,838,494 (GRCm38)	missense	probably damaging	1.00
IGL02095:Sdk2	APN	11	113,834,830 (GRCm38)	missense	probably damaging	1.00
IGL02115:Sdk2	APN	11	113,834,813 (GRCm38)	splice site	probably benign
IGL02543:Sdk2	APN	11	113,868,921 (GRCm38)	missense	possibly damaging	0.90
IGL02976:Sdk2	APN	11	113,851,842 (GRCm38)	missense	probably damaging	1.00
IGL03001:Sdk2	APN	11	113,821,626 (GRCm38)	missense	probably benign	0.00
IGL03122:Sdk2	APN	11	113,842,068 (GRCm38)	missense	probably damaging	1.00
IGL03183:Sdk2	APN	11	113,850,984 (GRCm38)	missense	probably benign	0.19
IGL03222:Sdk2	APN	11	113,838,431 (GRCm38)	missense	probably benign	0.01
IGL03310:Sdk2	APN	11	113,793,325 (GRCm38)	missense	possibly damaging	0.77
Curtailed	UTSW	11	113,851,800 (GRCm38)	missense	probably damaging	1.00
Trimmed	UTSW	11	113,856,696 (GRCm38)	nonsense	probably null
ANU05:Sdk2	UTSW	11	113,843,080 (GRCm38)	missense	probably benign
BB008:Sdk2	UTSW	11	113,893,441 (GRCm38)	missense	possibly damaging	0.79
BB018:Sdk2	UTSW	11	113,893,441 (GRCm38)	missense	possibly damaging	0.79
R0008:Sdk2	UTSW	11	113,856,755 (GRCm38)	missense	probably damaging	1.00
R0008:Sdk2	UTSW	11	113,856,755 (GRCm38)	missense	probably damaging	1.00
R0088:Sdk2	UTSW	11	113,827,086 (GRCm38)	missense	possibly damaging	0.74
R0096:Sdk2	UTSW	11	113,903,144 (GRCm38)	splice site	probably benign
R0386:Sdk2	UTSW	11	113,893,464 (GRCm38)	missense	probably damaging	0.96
R0396:Sdk2	UTSW	11	113,829,967 (GRCm38)	missense	probably benign	0.04
R0409:Sdk2	UTSW	11	113,850,891 (GRCm38)	splice site	probably benign
R0416:Sdk2	UTSW	11	113,803,203 (GRCm38)	missense	probably damaging	1.00
R0456:Sdk2	UTSW	11	113,791,466 (GRCm38)	missense	possibly damaging	0.93
R0544:Sdk2	UTSW	11	113,781,010 (GRCm38)	missense	probably damaging	1.00
R0691:Sdk2	UTSW	11	113,794,920 (GRCm38)	splice site	probably null
R0711:Sdk2	UTSW	11	113,903,144 (GRCm38)	splice site	probably benign
R0717:Sdk2	UTSW	11	113,832,326 (GRCm38)	missense	probably damaging	1.00
R0780:Sdk2	UTSW	11	113,893,508 (GRCm38)	missense	probably benign	0.07
R0831:Sdk2	UTSW	11	113,832,258 (GRCm38)	missense	probably damaging	0.96
R0853:Sdk2	UTSW	11	113,821,415 (GRCm38)	missense	probably benign	0.00
R0865:Sdk2	UTSW	11	113,850,922 (GRCm38)	missense	probably benign	0.12
R0930:Sdk2	UTSW	11	113,838,445 (GRCm38)	missense	probably benign	0.01
R0964:Sdk2	UTSW	11	113,806,417 (GRCm38)	splice site	probably benign
R1051:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1052:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1054:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1055:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1077:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1079:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1115:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1186:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1187:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1337:Sdk2	UTSW	11	113,832,331 (GRCm38)	missense	possibly damaging	0.79
R1430:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1433:Sdk2	UTSW	11	113,795,045 (GRCm38)	missense	probably damaging	0.99
R1464:Sdk2	UTSW	11	113,830,080 (GRCm38)	missense	possibly damaging	0.86
R1464:Sdk2	UTSW	11	113,830,080 (GRCm38)	missense	possibly damaging	0.86
R1497:Sdk2	UTSW	11	113,893,575 (GRCm38)	splice site	probably benign
R1514:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1529:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1596:Sdk2	UTSW	11	113,838,609 (GRCm38)	splice site	probably benign
R1680:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1680:Sdk2	UTSW	11	113,791,436 (GRCm38)	missense	possibly damaging	0.47
R1770:Sdk2	UTSW	11	113,793,741 (GRCm38)	missense	probably benign	0.05
R1858:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1866:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1874:Sdk2	UTSW	11	113,834,956 (GRCm38)	missense	probably benign	0.00
R1899:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1905:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1907:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1913:Sdk2	UTSW	11	113,856,726 (GRCm38)	missense	possibly damaging	0.77
R1964:Sdk2	UTSW	11	113,781,017 (GRCm38)	nonsense	probably null
R2055:Sdk2	UTSW	11	113,850,954 (GRCm38)	missense	probably damaging	1.00
R2059:Sdk2	UTSW	11	113,854,332 (GRCm38)	missense	probably damaging	1.00
R2093:Sdk2	UTSW	11	113,943,122 (GRCm38)	missense	probably damaging	1.00
R2256:Sdk2	UTSW	11	113,830,794 (GRCm38)	missense	probably benign	0.44
R3720:Sdk2	UTSW	11	113,800,244 (GRCm38)	missense	probably damaging	1.00
R3795:Sdk2	UTSW	11	113,856,696 (GRCm38)	nonsense	probably null
R4037:Sdk2	UTSW	11	113,795,055 (GRCm38)	missense	probably damaging	1.00
R4171:Sdk2	UTSW	11	113,866,989 (GRCm38)	splice site	probably null
R4717:Sdk2	UTSW	11	113,854,369 (GRCm38)	missense	probably damaging	0.96
R4758:Sdk2	UTSW	11	113,827,054 (GRCm38)	missense	possibly damaging	0.87
R4857:Sdk2	UTSW	11	113,821,382 (GRCm38)	nonsense	probably null
R4924:Sdk2	UTSW	11	113,857,758 (GRCm38)	missense	probably damaging	1.00
R5015:Sdk2	UTSW	11	113,793,761 (GRCm38)	missense	probably damaging	1.00
R5171:Sdk2	UTSW	11	113,850,982 (GRCm38)	missense	probably benign	0.01
R5239:Sdk2	UTSW	11	113,868,033 (GRCm38)	missense	probably damaging	1.00
R5243:Sdk2	UTSW	11	113,825,086 (GRCm38)	missense	possibly damaging	0.76
R5279:Sdk2	UTSW	11	113,867,031 (GRCm38)	missense	probably benign	0.31
R5535:Sdk2	UTSW	11	113,943,158 (GRCm38)	missense	possibly damaging	0.80
R5634:Sdk2	UTSW	11	113,851,714 (GRCm38)	missense	probably damaging	1.00
R5637:Sdk2	UTSW	11	113,833,179 (GRCm38)	missense	probably damaging	1.00
R5726:Sdk2	UTSW	11	113,851,800 (GRCm38)	missense	probably damaging	1.00
R5793:Sdk2	UTSW	11	113,868,952 (GRCm38)	missense	possibly damaging	0.46
R5798:Sdk2	UTSW	11	113,827,116 (GRCm38)	missense	probably damaging	1.00
R5834:Sdk2	UTSW	11	113,854,273 (GRCm38)	missense	probably damaging	1.00
R5863:Sdk2	UTSW	11	113,834,984 (GRCm38)	missense	probably damaging	0.98
R5869:Sdk2	UTSW	11	113,851,882 (GRCm38)	missense	probably damaging	0.96
R5875:Sdk2	UTSW	11	113,830,059 (GRCm38)	missense	probably benign	0.00
R5953:Sdk2	UTSW	11	113,793,744 (GRCm38)	missense	probably damaging	1.00
R5991:Sdk2	UTSW	11	113,943,254 (GRCm38)	missense	probably damaging	0.97
R6018:Sdk2	UTSW	11	113,830,063 (GRCm38)	missense	probably benign	0.00
R6116:Sdk2	UTSW	11	113,854,364 (GRCm38)	missense	probably damaging	0.99
R6328:Sdk2	UTSW	11	113,793,755 (GRCm38)	missense	probably damaging	1.00
R6348:Sdk2	UTSW	11	113,893,508 (GRCm38)	missense	probably benign	0.07
R6383:Sdk2	UTSW	11	113,832,265 (GRCm38)	missense	probably damaging	1.00
R6824:Sdk2	UTSW	11	113,867,934 (GRCm38)	missense	probably benign	0.43
R6835:Sdk2	UTSW	11	113,830,048 (GRCm38)	missense	probably damaging	0.98
R6853:Sdk2	UTSW	11	113,780,929 (GRCm38)	missense	probably damaging	0.99
R6912:Sdk2	UTSW	11	113,903,120 (GRCm38)	missense	probably benign	0.03
R7000:Sdk2	UTSW	11	113,803,169 (GRCm38)	missense	probably damaging	1.00
R7099:Sdk2	UTSW	11	113,834,905 (GRCm38)	missense	probably damaging	0.98
R7102:Sdk2	UTSW	11	113,842,690 (GRCm38)	nonsense	probably null
R7177:Sdk2	UTSW	11	113,829,969 (GRCm38)	missense	possibly damaging	0.91
R7381:Sdk2	UTSW	11	113,838,489 (GRCm38)	missense	probably damaging	0.98
R7412:Sdk2	UTSW	11	113,868,083 (GRCm38)	splice site	probably null
R7504:Sdk2	UTSW	11	113,867,967 (GRCm38)	missense	possibly damaging	0.50
R7552:Sdk2	UTSW	11	113,873,213 (GRCm38)	missense	possibly damaging	0.63
R7604:Sdk2	UTSW	11	113,829,969 (GRCm38)	missense	possibly damaging	0.91
R7647:Sdk2	UTSW	11	113,793,737 (GRCm38)	missense	probably damaging	1.00
R7897:Sdk2	UTSW	11	113,873,201 (GRCm38)	missense	possibly damaging	0.50
R7931:Sdk2	UTSW	11	113,893,441 (GRCm38)	missense	possibly damaging	0.79
R7998:Sdk2	UTSW	11	113,859,938 (GRCm38)	missense	probably benign	0.18
R8052:Sdk2	UTSW	11	113,854,351 (GRCm38)	missense	probably damaging	1.00
R8053:Sdk2	UTSW	11	113,854,351 (GRCm38)	missense	probably damaging	1.00
R8084:Sdk2	UTSW	11	113,827,089 (GRCm38)	missense	possibly damaging	0.67
R8136:Sdk2	UTSW	11	113,851,713 (GRCm38)	missense	probably damaging	1.00
R8151:Sdk2	UTSW	11	113,872,857 (GRCm38)	missense	possibly damaging	0.84
R8394:Sdk2	UTSW	11	113,838,716 (GRCm38)	missense	probably benign
R8715:Sdk2	UTSW	11	113,780,902 (GRCm38)	missense	probably damaging	1.00
R8774:Sdk2	UTSW	11	113,839,343 (GRCm38)	missense	probably damaging	1.00
R8774-TAIL:Sdk2	UTSW	11	113,839,343 (GRCm38)	missense	probably damaging	1.00
R8804:Sdk2	UTSW	11	113,873,152 (GRCm38)	nonsense	probably null
R9136:Sdk2	UTSW	11	113,806,377 (GRCm38)	missense	probably damaging	1.00
R9147:Sdk2	UTSW	11	113,823,400 (GRCm38)	missense	probably benign	0.18
R9300:Sdk2	UTSW	11	113,825,030 (GRCm38)	missense	possibly damaging	0.63
R9354:Sdk2	UTSW	11	113,834,931 (GRCm38)	missense	probably benign	0.00
R9450:Sdk2	UTSW	11	113,806,279 (GRCm38)	missense	probably benign
R9462:Sdk2	UTSW	11	113,869,918 (GRCm38)	missense	possibly damaging	0.56
R9616:Sdk2	UTSW	11	113,800,235 (GRCm38)	missense	probably benign	0.05
R9678:Sdk2	UTSW	11	113,794,963 (GRCm38)	nonsense	probably null
RF002:Sdk2	UTSW	11	113,885,252 (GRCm38)	missense	probably benign	0.00
V1662:Sdk2	UTSW	11	113,834,908 (GRCm38)	missense	probably damaging	1.00
Z1176:Sdk2	UTSW	11	113,851,836 (GRCm38)	missense	probably damaging	0.97
Z1176:Sdk2	UTSW	11	113,839,322 (GRCm38)	missense	probably benign	0.41
Z1177:Sdk2	UTSW	11	113,859,956 (GRCm38)	missense	probably benign
Z1177:Sdk2	UTSW	11	113,839,320 (GRCm38)	missense	probably damaging	1.00
Z1177:Sdk2	UTSW	11	113,838,659 (GRCm38)	missense	probably damaging	0.99

Posted On

2013-06-21