Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Sdk1'

93217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdk1

Ensembl Gene

ENSMUSG00000039683

Gene Name

sidekick cell adhesion molecule 1

Synonyms

6720466O15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

141241490-142215586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142085765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1237 (F1237L)

Ref Sequence

ENSEMBL: ENSMUSP00000082928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074546] [ENSMUST00000085774]

AlphaFold

Q3UH53

Predicted Effect

probably benign
Transcript: ENSMUST00000074546
AA Change: F977L

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

SMART Domains

Protein: ENSMUSP00000074133
Gene: ENSMUSG00000039683
AA Change: F977L

Domain	Start	End	E-Value	Type
IGc2	28	91	4.67e-4	SMART
IGc2	121	187	1.45e-9	SMART
IGc2	214	282	1.58e-10	SMART
IG	302	387	1.8e-5	SMART
FN3	390	474	7.39e-14	SMART
FN3	490	576	8.96e-13	SMART
FN3	591	679	1.95e-4	SMART
FN3	694	776	2e-10	SMART
FN3	792	879	4.22e-9	SMART
FN3	896	983	1.41e-10	SMART
FN3	999	1084	2.7e-7	SMART
FN3	1100	1183	1.3e-9	SMART
FN3	1199	1284	2.19e-7	SMART
FN3	1300	1408	5.73e-11	SMART
FN3	1424	1509	1.79e-12	SMART
FN3	1524	1611	1.16e-11	SMART
FN3	1625	1709	1.32e-10	SMART
transmembrane domain	1730	1752	N/A	INTRINSIC
low complexity region	1806	1815	N/A	INTRINSIC
low complexity region	1846	1858	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085774
AA Change: F1237L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: F1237L

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
low complexity region	67	80	N/A	INTRINSIC
IGc2	99	158	2.77e-6	SMART
IG	179	264	3.74e-3	SMART
IGc2	288	351	4.67e-4	SMART
IGc2	381	447	1.45e-9	SMART
IGc2	474	542	1.58e-10	SMART
IG	562	647	1.8e-5	SMART
FN3	650	734	7.39e-14	SMART
FN3	750	836	8.96e-13	SMART
FN3	851	939	1.95e-4	SMART
FN3	954	1036	2e-10	SMART
FN3	1052	1139	4.22e-9	SMART
FN3	1156	1243	1.41e-10	SMART
FN3	1259	1344	2.7e-7	SMART
FN3	1360	1443	1.3e-9	SMART
FN3	1459	1544	2.19e-7	SMART
FN3	1560	1668	5.73e-11	SMART
FN3	1684	1769	1.79e-12	SMART
FN3	1784	1871	1.16e-11	SMART
FN3	1885	1969	1.32e-10	SMART
transmembrane domain	1990	2012	N/A	INTRINSIC
low complexity region	2066	2075	N/A	INTRINSIC
low complexity region	2106	2118	N/A	INTRINSIC

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 six immunoglobulin-like 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	Het

Other mutations in Sdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Sdk1	APN	5	142085606	missense	probably damaging	1.00
IGL00945:Sdk1	APN	5	142084613	critical splice donor site	probably null
IGL00946:Sdk1	APN	5	142084613	critical splice donor site	probably null
IGL01394:Sdk1	APN	5	141613215	missense	probably benign	0.03
IGL01398:Sdk1	APN	5	141937577	missense	probably benign	0.00
IGL01410:Sdk1	APN	5	142212120	missense	probably benign	0.30
IGL01525:Sdk1	APN	5	141999920	missense	probably damaging	1.00
IGL01672:Sdk1	APN	5	142185175	missense	probably benign	0.33
IGL01676:Sdk1	APN	5	142127836	missense	probably damaging	0.99
IGL01679:Sdk1	APN	5	142046164	missense	probably benign
IGL01929:Sdk1	APN	5	141953030	missense	probably damaging	0.99
IGL01970:Sdk1	APN	5	142085682	missense	possibly damaging	0.67
IGL02016:Sdk1	APN	5	142034429	missense	possibly damaging	0.85
IGL02060:Sdk1	APN	5	141953012	missense	possibly damaging	0.79
IGL02457:Sdk1	APN	5	141953016	missense	probably damaging	1.00
IGL02634:Sdk1	APN	5	141610032	missense	probably benign	0.01
IGL02637:Sdk1	APN	5	142094572	missense	probably damaging	1.00
IGL02731:Sdk1	APN	5	142172544	missense	probably damaging	1.00
IGL03180:Sdk1	APN	5	142085742	missense	probably damaging	0.96
IGL03259:Sdk1	APN	5	141953033	nonsense	probably null
PIT4453001:Sdk1	UTSW	5	142212038	missense	probably benign	0.00
PIT4544001:Sdk1	UTSW	5	141956232	missense	probably benign	0.08
R0149:Sdk1	UTSW	5	141857054	intron	probably benign
R0173:Sdk1	UTSW	5	142173809	splice site	probably benign
R0240:Sdk1	UTSW	5	141998747	missense	probably damaging	1.00
R0240:Sdk1	UTSW	5	141998747	missense	probably damaging	1.00
R0242:Sdk1	UTSW	5	142143922	splice site	probably benign
R0245:Sdk1	UTSW	5	141954958	missense	probably benign	0.02
R0270:Sdk1	UTSW	5	142084566	missense	possibly damaging	0.79
R0398:Sdk1	UTSW	5	141962721	missense	probably benign	0.05
R0401:Sdk1	UTSW	5	142046161	missense	possibly damaging	0.55
R0501:Sdk1	UTSW	5	141937718	missense	probably benign
R0558:Sdk1	UTSW	5	142132065	missense	probably damaging	1.00
R0652:Sdk1	UTSW	5	141954958	missense	probably benign	0.02
R0834:Sdk1	UTSW	5	141242024	missense	probably benign
R0962:Sdk1	UTSW	5	142161875	missense	probably damaging	1.00
R1424:Sdk1	UTSW	5	142161866	missense	probably damaging	1.00
R1438:Sdk1	UTSW	5	142038323	missense	probably damaging	0.96
R1517:Sdk1	UTSW	5	142127836	missense	probably damaging	0.99
R1519:Sdk1	UTSW	5	141999950	missense	probably benign	0.00
R1539:Sdk1	UTSW	5	142094599	missense	probably damaging	1.00
R1574:Sdk1	UTSW	5	141998879	missense	probably benign	0.03
R1574:Sdk1	UTSW	5	141998879	missense	probably benign	0.03
R1673:Sdk1	UTSW	5	141948506	missense	possibly damaging	0.90
R1686:Sdk1	UTSW	5	142034537	missense	probably benign	0.00
R1806:Sdk1	UTSW	5	141613195	missense	probably damaging	1.00
R1806:Sdk1	UTSW	5	142161926	missense	probably benign
R1925:Sdk1	UTSW	5	142185285	missense	probably benign	0.09
R1956:Sdk1	UTSW	5	142094581	missense	probably damaging	1.00
R1976:Sdk1	UTSW	5	142143818	missense	probably damaging	1.00
R2124:Sdk1	UTSW	5	142185188	missense	possibly damaging	0.70
R2152:Sdk1	UTSW	5	141792944	missense	probably damaging	1.00
R2186:Sdk1	UTSW	5	142046292	missense	probably benign	0.00
R2187:Sdk1	UTSW	5	142114574	missense	probably damaging	1.00
R2306:Sdk1	UTSW	5	141962700	missense	probably benign	0.00
R2520:Sdk1	UTSW	5	142085771	missense	probably benign	0.19
R2698:Sdk1	UTSW	5	142212050	missense	possibly damaging	0.95
R2763:Sdk1	UTSW	5	142084551	missense	possibly damaging	0.90
R3023:Sdk1	UTSW	5	142046236	missense	probably benign
R3500:Sdk1	UTSW	5	142006616	splice site	probably benign
R3613:Sdk1	UTSW	5	142119686	missense	probably damaging	1.00
R3824:Sdk1	UTSW	5	141936049	missense	probably benign
R3916:Sdk1	UTSW	5	142051244	missense	probably damaging	0.98
R3917:Sdk1	UTSW	5	142051244	missense	probably damaging	0.98
R4158:Sdk1	UTSW	5	142114399	missense	probably benign	0.00
R4160:Sdk1	UTSW	5	142114399	missense	probably benign	0.00
R4161:Sdk1	UTSW	5	142114399	missense	probably benign	0.00
R4386:Sdk1	UTSW	5	142094626	missense	probably damaging	0.99
R4649:Sdk1	UTSW	5	142006625	missense	probably damaging	1.00
R4701:Sdk1	UTSW	5	142185231	missense	probably damaging	1.00
R4780:Sdk1	UTSW	5	141959238	missense	probably damaging	0.97
R4787:Sdk1	UTSW	5	141582413	missense	probably benign
R4825:Sdk1	UTSW	5	141582294	missense	probably benign	0.11
R4853:Sdk1	UTSW	5	142146263	missense	probably damaging	1.00
R4857:Sdk1	UTSW	5	142161776	missense	probably benign	0.01
R4928:Sdk1	UTSW	5	141857003	intron	probably benign
R5111:Sdk1	UTSW	5	142127845	missense	probably damaging	1.00
R5188:Sdk1	UTSW	5	141956260	critical splice donor site	probably null
R5246:Sdk1	UTSW	5	142114562	missense	possibly damaging	0.72
R5273:Sdk1	UTSW	5	141998828	missense	probably damaging	0.99
R5484:Sdk1	UTSW	5	142100186	missense	probably damaging	1.00
R5525:Sdk1	UTSW	5	142185265	missense	possibly damaging	0.84
R5578:Sdk1	UTSW	5	141613125	nonsense	probably null
R5593:Sdk1	UTSW	5	141956124	missense	probably damaging	0.98
R5654:Sdk1	UTSW	5	141936098	missense	probably damaging	0.96
R5672:Sdk1	UTSW	5	142188145	missense	possibly damaging	0.94
R5768:Sdk1	UTSW	5	142143871	missense	probably benign	0.00
R5781:Sdk1	UTSW	5	141936048	missense	probably benign	0.00
R5846:Sdk1	UTSW	5	142114393	missense	probably damaging	1.00
R5851:Sdk1	UTSW	5	141962669	missense	probably benign	0.00
R6164:Sdk1	UTSW	5	142132069	missense	probably damaging	1.00
R6235:Sdk1	UTSW	5	142034426	missense	possibly damaging	0.85
R6364:Sdk1	UTSW	5	141962709	missense	probably benign	0.00
R6453:Sdk1	UTSW	5	142096921	missense	probably damaging	1.00
R6892:Sdk1	UTSW	5	142046298	missense	probably benign	0.00
R6996:Sdk1	UTSW	5	142212014	missense	probably benign	0.16
R7003:Sdk1	UTSW	5	142096734	missense	probably benign	0.01
R7022:Sdk1	UTSW	5	142094657	splice site	probably null
R7027:Sdk1	UTSW	5	142096726	splice site	probably null
R7098:Sdk1	UTSW	5	142096870	missense	probably damaging	0.96
R7107:Sdk1	UTSW	5	142081716	missense	probably damaging	0.99
R7203:Sdk1	UTSW	5	142046176	missense	probably benign	0.08
R7313:Sdk1	UTSW	5	141937622	missense	probably damaging	0.97
R7363:Sdk1	UTSW	5	142188142	missense	probably benign	0.05
R7375:Sdk1	UTSW	5	141998843	missense	probably benign	0.01
R7446:Sdk1	UTSW	5	142144976	missense	probably damaging	1.00
R7527:Sdk1	UTSW	5	141792976	missense	possibly damaging	0.61
R7598:Sdk1	UTSW	5	141609998	nonsense	probably null
R7747:Sdk1	UTSW	5	142084491	missense	probably damaging	1.00
R7810:Sdk1	UTSW	5	141937679	missense	probably benign
R7985:Sdk1	UTSW	5	142127847	missense	probably damaging	1.00
R8129:Sdk1	UTSW	5	142191893	missense	probably benign	0.10
R8217:Sdk1	UTSW	5	142211958	missense	possibly damaging	0.81
R8249:Sdk1	UTSW	5	142188015	critical splice acceptor site	probably null
R8376:Sdk1	UTSW	5	142158621	missense	possibly damaging	0.83
R8779:Sdk1	UTSW	5	141962702	missense	probably benign	0.00
R8807:Sdk1	UTSW	5	142085627	missense	probably damaging	1.00
R8907:Sdk1	UTSW	5	142084523	missense	probably damaging	0.99
R8942:Sdk1	UTSW	5	142096843	missense	probably damaging	1.00
R8945:Sdk1	UTSW	5	141613180	missense	probably benign
R9006:Sdk1	UTSW	5	141937566	missense	probably damaging	1.00
R9249:Sdk1	UTSW	5	142143795	missense	probably damaging	1.00
R9275:Sdk1	UTSW	5	141956198	missense	possibly damaging	0.95
R9345:Sdk1	UTSW	5	142161953	missense	probably benign
R9463:Sdk1	UTSW	5	141962793	missense	probably benign	0.31
R9549:Sdk1	UTSW	5	141954902	missense	possibly damaging	0.95
R9572:Sdk1	UTSW	5	141610029	missense	probably damaging	1.00
R9602:Sdk1	UTSW	5	142085598	missense	probably damaging	0.99
R9703:Sdk1	UTSW	5	142114528	missense	possibly damaging	0.95
R9720:Sdk1	UTSW	5	142212041	missense	probably damaging	0.96
R9771:Sdk1	UTSW	5	142096869	missense	probably damaging	0.99
X0017:Sdk1	UTSW	5	141998780	missense	probably benign	0.00
Z1176:Sdk1	UTSW	5	141959310	missense	probably null	0.58
Z1177:Sdk1	UTSW	5	141962708	missense	possibly damaging	0.87

Posted On

2013-12-09