Mutagenetix > Incidental Mutation

Incidental Mutation 'R2186:Sdk1'

237759

Institutional Source

Beutler Lab

Gene Symbol

Sdk1

Ensembl Gene

ENSMUSG00000039683

Gene Name

sidekick cell adhesion molecule 1

Synonyms

6720466O15Rik

MMRRC Submission

040188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2186 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

141227245-142201341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142032047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1041 (S1041T)

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: S781T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074133
Gene: ENSMUSG00000039683
AA Change: S781T

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

probably benign
Transcript: ENSMUST00000085774
AA Change: S1041T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: S1041T

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

Meta Mutation Damage Score

0.3582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,340 (GRCm39)	N29S	probably damaging	Het
Ap1b1	T	C	11: 4,965,737 (GRCm39)	V92A	possibly damaging	Het
Asgr1	G	A	11: 69,947,075 (GRCm39)	R66Q	probably benign	Het
Atp8b4	T	A	2: 126,200,780 (GRCm39)	Q796L	probably damaging	Het
Camk4	A	C	18: 33,315,394 (GRCm39)	D307A	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Ccdc80	A	G	16: 44,938,468 (GRCm39)	Y725C	probably damaging	Het
Cep164	T	A	9: 45,679,876 (GRCm39)	Q1119L	probably damaging	Het
Cep85l	G	A	10: 53,224,714 (GRCm39)	P292S	probably damaging	Het
Cfap53	A	G	18: 74,462,576 (GRCm39)		probably null	Het
Cilk1	C	T	9: 78,038,769 (GRCm39)	T6M	probably benign	Het
Cts8	C	A	13: 61,399,545 (GRCm39)	C138F	probably damaging	Het
Dis3l	C	A	9: 64,246,894 (GRCm39)	E54*	probably null	Het
Dnaja1	T	A	4: 40,732,853 (GRCm39)	D367E	probably benign	Het
Duoxa2	T	C	2: 122,129,655 (GRCm39)	I45T	probably damaging	Het
EU599041	C	T	7: 42,875,333 (GRCm39)		noncoding transcript	Het
Exoc5	T	C	14: 49,252,936 (GRCm39)	M561V	probably benign	Het
Fam184a	T	C	10: 53,514,290 (GRCm39)	I296V	probably damaging	Het
Fbxl18	C	T	5: 142,864,516 (GRCm39)	V686M	probably damaging	Het
Fryl	A	G	5: 73,222,318 (GRCm39)	S2088P	probably damaging	Het
Fus	G	A	7: 127,584,706 (GRCm39)		probably benign	Het
Gpr183	T	A	14: 122,191,727 (GRCm39)	I265L	probably benign	Het
Herc1	T	G	9: 66,347,183 (GRCm39)	L2013V	probably benign	Het
Iqca1	T	C	1: 90,009,066 (GRCm39)	K430R	probably benign	Het
Iqca1l	C	T	5: 24,759,524 (GRCm39)	G82E	probably damaging	Het
Itpripl2	A	G	7: 118,090,500 (GRCm39)	C20R	probably damaging	Het
Kmt2c	C	A	5: 25,492,110 (GRCm39)	C852F	probably damaging	Het
Lamb1	A	T	12: 31,368,466 (GRCm39)	K1199*	probably null	Het
Lrba	A	G	3: 86,211,643 (GRCm39)	Y421C	probably damaging	Het
Lrig2	A	G	3: 104,375,914 (GRCm39)	L96P	probably benign	Het
Mcc	A	G	18: 44,945,145 (GRCm39)	F29S	possibly damaging	Het
Mlh1	T	C	9: 111,087,634 (GRCm39)		probably benign	Het
Pals1	T	C	12: 78,866,145 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,599,228 (GRCm39)	T867A	unknown	Het
Serpinb2	A	G	1: 107,451,694 (GRCm39)		probably null	Het
Serpinb9d	A	G	13: 33,387,030 (GRCm39)	N366S	possibly damaging	Het
Sf3b1	A	G	1: 55,046,792 (GRCm39)	S251P	probably benign	Het
Slc45a1	T	C	4: 150,722,708 (GRCm39)	Y392C	probably benign	Het
Tlr4	T	A	4: 66,758,220 (GRCm39)	C338S	possibly damaging	Het
Trio	A	G	15: 27,824,061 (GRCm39)		probably null	Het
Vnn1	A	T	10: 23,773,299 (GRCm39)	I109L	probably benign	Het
Wnk1	A	G	6: 119,925,528 (GRCm39)	V1312A	probably benign	Het
Zbed6	A	G	1: 133,585,817 (GRCm39)	S507P	probably damaging	Het
Zfp28	A	G	7: 6,397,497 (GRCm39)	H644R	probably damaging	Het
Zfp286	A	G	11: 62,671,287 (GRCm39)	V262A	probably damaging	Het
Zfp292	A	T	4: 34,807,962 (GRCm39)	M1694K	probably benign	Het

Other mutations in Sdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Sdk1	APN	5	142,071,361 (GRCm39)	missense	probably damaging	1.00
IGL00945:Sdk1	APN	5	142,070,368 (GRCm39)	critical splice donor site	probably null
IGL00946:Sdk1	APN	5	142,070,368 (GRCm39)	critical splice donor site	probably null
IGL01394:Sdk1	APN	5	141,598,970 (GRCm39)	missense	probably benign	0.03
IGL01398:Sdk1	APN	5	141,923,332 (GRCm39)	missense	probably benign	0.00
IGL01410:Sdk1	APN	5	142,197,875 (GRCm39)	missense	probably benign	0.30
IGL01525:Sdk1	APN	5	141,985,675 (GRCm39)	missense	probably damaging	1.00
IGL01548:Sdk1	APN	5	142,071,520 (GRCm39)	missense	possibly damaging	0.95
IGL01672:Sdk1	APN	5	142,170,930 (GRCm39)	missense	probably benign	0.33
IGL01676:Sdk1	APN	5	142,113,591 (GRCm39)	missense	probably damaging	0.99
IGL01679:Sdk1	APN	5	142,031,919 (GRCm39)	missense	probably benign
IGL01929:Sdk1	APN	5	141,938,785 (GRCm39)	missense	probably damaging	0.99
IGL01970:Sdk1	APN	5	142,071,437 (GRCm39)	missense	possibly damaging	0.67
IGL02016:Sdk1	APN	5	142,020,184 (GRCm39)	missense	possibly damaging	0.85
IGL02060:Sdk1	APN	5	141,938,767 (GRCm39)	missense	possibly damaging	0.79
IGL02457:Sdk1	APN	5	141,938,771 (GRCm39)	missense	probably damaging	1.00
IGL02634:Sdk1	APN	5	141,595,787 (GRCm39)	missense	probably benign	0.01
IGL02637:Sdk1	APN	5	142,080,327 (GRCm39)	missense	probably damaging	1.00
IGL02731:Sdk1	APN	5	142,158,299 (GRCm39)	missense	probably damaging	1.00
IGL03180:Sdk1	APN	5	142,071,497 (GRCm39)	missense	probably damaging	0.96
IGL03259:Sdk1	APN	5	141,938,788 (GRCm39)	nonsense	probably null
PIT4453001:Sdk1	UTSW	5	142,197,793 (GRCm39)	missense	probably benign	0.00
PIT4544001:Sdk1	UTSW	5	141,941,987 (GRCm39)	missense	probably benign	0.08
R0149:Sdk1	UTSW	5	141,842,809 (GRCm39)	intron	probably benign
R0173:Sdk1	UTSW	5	142,159,564 (GRCm39)	splice site	probably benign
R0240:Sdk1	UTSW	5	141,984,502 (GRCm39)	missense	probably damaging	1.00
R0240:Sdk1	UTSW	5	141,984,502 (GRCm39)	missense	probably damaging	1.00
R0242:Sdk1	UTSW	5	142,129,677 (GRCm39)	splice site	probably benign
R0245:Sdk1	UTSW	5	141,940,713 (GRCm39)	missense	probably benign	0.02
R0270:Sdk1	UTSW	5	142,070,321 (GRCm39)	missense	possibly damaging	0.79
R0398:Sdk1	UTSW	5	141,948,476 (GRCm39)	missense	probably benign	0.05
R0401:Sdk1	UTSW	5	142,031,916 (GRCm39)	missense	possibly damaging	0.55
R0501:Sdk1	UTSW	5	141,923,473 (GRCm39)	missense	probably benign
R0558:Sdk1	UTSW	5	142,117,820 (GRCm39)	missense	probably damaging	1.00
R0652:Sdk1	UTSW	5	141,940,713 (GRCm39)	missense	probably benign	0.02
R0834:Sdk1	UTSW	5	141,227,779 (GRCm39)	missense	probably benign
R0962:Sdk1	UTSW	5	142,147,630 (GRCm39)	missense	probably damaging	1.00
R1424:Sdk1	UTSW	5	142,147,621 (GRCm39)	missense	probably damaging	1.00
R1438:Sdk1	UTSW	5	142,024,078 (GRCm39)	missense	probably damaging	0.96
R1517:Sdk1	UTSW	5	142,113,591 (GRCm39)	missense	probably damaging	0.99
R1519:Sdk1	UTSW	5	141,985,705 (GRCm39)	missense	probably benign	0.00
R1539:Sdk1	UTSW	5	142,080,354 (GRCm39)	missense	probably damaging	1.00
R1574:Sdk1	UTSW	5	141,984,634 (GRCm39)	missense	probably benign	0.03
R1574:Sdk1	UTSW	5	141,984,634 (GRCm39)	missense	probably benign	0.03
R1673:Sdk1	UTSW	5	141,934,261 (GRCm39)	missense	possibly damaging	0.90
R1686:Sdk1	UTSW	5	142,020,292 (GRCm39)	missense	probably benign	0.00
R1806:Sdk1	UTSW	5	142,147,681 (GRCm39)	missense	probably benign
R1806:Sdk1	UTSW	5	141,598,950 (GRCm39)	missense	probably damaging	1.00
R1925:Sdk1	UTSW	5	142,171,040 (GRCm39)	missense	probably benign	0.09
R1956:Sdk1	UTSW	5	142,080,336 (GRCm39)	missense	probably damaging	1.00
R1976:Sdk1	UTSW	5	142,129,573 (GRCm39)	missense	probably damaging	1.00
R2124:Sdk1	UTSW	5	142,170,943 (GRCm39)	missense	possibly damaging	0.70
R2152:Sdk1	UTSW	5	141,778,699 (GRCm39)	missense	probably damaging	1.00
R2187:Sdk1	UTSW	5	142,100,329 (GRCm39)	missense	probably damaging	1.00
R2306:Sdk1	UTSW	5	141,948,455 (GRCm39)	missense	probably benign	0.00
R2520:Sdk1	UTSW	5	142,071,526 (GRCm39)	missense	probably benign	0.19
R2698:Sdk1	UTSW	5	142,197,805 (GRCm39)	missense	possibly damaging	0.95
R2763:Sdk1	UTSW	5	142,070,306 (GRCm39)	missense	possibly damaging	0.90
R3023:Sdk1	UTSW	5	142,031,991 (GRCm39)	missense	probably benign
R3500:Sdk1	UTSW	5	141,992,371 (GRCm39)	splice site	probably benign
R3613:Sdk1	UTSW	5	142,105,441 (GRCm39)	missense	probably damaging	1.00
R3824:Sdk1	UTSW	5	141,921,804 (GRCm39)	missense	probably benign
R3916:Sdk1	UTSW	5	142,036,999 (GRCm39)	missense	probably damaging	0.98
R3917:Sdk1	UTSW	5	142,036,999 (GRCm39)	missense	probably damaging	0.98
R4158:Sdk1	UTSW	5	142,100,154 (GRCm39)	missense	probably benign	0.00
R4160:Sdk1	UTSW	5	142,100,154 (GRCm39)	missense	probably benign	0.00
R4161:Sdk1	UTSW	5	142,100,154 (GRCm39)	missense	probably benign	0.00
R4386:Sdk1	UTSW	5	142,080,381 (GRCm39)	missense	probably damaging	0.99
R4649:Sdk1	UTSW	5	141,992,380 (GRCm39)	missense	probably damaging	1.00
R4701:Sdk1	UTSW	5	142,170,986 (GRCm39)	missense	probably damaging	1.00
R4780:Sdk1	UTSW	5	141,944,993 (GRCm39)	missense	probably damaging	0.97
R4787:Sdk1	UTSW	5	141,568,168 (GRCm39)	missense	probably benign
R4825:Sdk1	UTSW	5	141,568,049 (GRCm39)	missense	probably benign	0.11
R4853:Sdk1	UTSW	5	142,132,018 (GRCm39)	missense	probably damaging	1.00
R4857:Sdk1	UTSW	5	142,147,531 (GRCm39)	missense	probably benign	0.01
R4928:Sdk1	UTSW	5	141,842,758 (GRCm39)	intron	probably benign
R5111:Sdk1	UTSW	5	142,113,600 (GRCm39)	missense	probably damaging	1.00
R5188:Sdk1	UTSW	5	141,942,015 (GRCm39)	critical splice donor site	probably null
R5246:Sdk1	UTSW	5	142,100,317 (GRCm39)	missense	possibly damaging	0.72
R5273:Sdk1	UTSW	5	141,984,583 (GRCm39)	missense	probably damaging	0.99
R5484:Sdk1	UTSW	5	142,085,941 (GRCm39)	missense	probably damaging	1.00
R5525:Sdk1	UTSW	5	142,171,020 (GRCm39)	missense	possibly damaging	0.84
R5578:Sdk1	UTSW	5	141,598,880 (GRCm39)	nonsense	probably null
R5593:Sdk1	UTSW	5	141,941,879 (GRCm39)	missense	probably damaging	0.98
R5654:Sdk1	UTSW	5	141,921,853 (GRCm39)	missense	probably damaging	0.96
R5672:Sdk1	UTSW	5	142,173,900 (GRCm39)	missense	possibly damaging	0.94
R5768:Sdk1	UTSW	5	142,129,626 (GRCm39)	missense	probably benign	0.00
R5781:Sdk1	UTSW	5	141,921,803 (GRCm39)	missense	probably benign	0.00
R5846:Sdk1	UTSW	5	142,100,148 (GRCm39)	missense	probably damaging	1.00
R5851:Sdk1	UTSW	5	141,948,424 (GRCm39)	missense	probably benign	0.00
R6164:Sdk1	UTSW	5	142,117,824 (GRCm39)	missense	probably damaging	1.00
R6235:Sdk1	UTSW	5	142,020,181 (GRCm39)	missense	possibly damaging	0.85
R6364:Sdk1	UTSW	5	141,948,464 (GRCm39)	missense	probably benign	0.00
R6453:Sdk1	UTSW	5	142,082,676 (GRCm39)	missense	probably damaging	1.00
R6892:Sdk1	UTSW	5	142,032,053 (GRCm39)	missense	probably benign	0.00
R6996:Sdk1	UTSW	5	142,197,769 (GRCm39)	missense	probably benign	0.16
R7003:Sdk1	UTSW	5	142,082,489 (GRCm39)	missense	probably benign	0.01
R7022:Sdk1	UTSW	5	142,080,412 (GRCm39)	splice site	probably null
R7027:Sdk1	UTSW	5	142,082,481 (GRCm39)	splice site	probably null
R7098:Sdk1	UTSW	5	142,082,625 (GRCm39)	missense	probably damaging	0.96
R7107:Sdk1	UTSW	5	142,067,471 (GRCm39)	missense	probably damaging	0.99
R7203:Sdk1	UTSW	5	142,031,931 (GRCm39)	missense	probably benign	0.08
R7313:Sdk1	UTSW	5	141,923,377 (GRCm39)	missense	probably damaging	0.97
R7363:Sdk1	UTSW	5	142,173,897 (GRCm39)	missense	probably benign	0.05
R7375:Sdk1	UTSW	5	141,984,598 (GRCm39)	missense	probably benign	0.01
R7446:Sdk1	UTSW	5	142,130,731 (GRCm39)	missense	probably damaging	1.00
R7527:Sdk1	UTSW	5	141,778,731 (GRCm39)	missense	possibly damaging	0.61
R7598:Sdk1	UTSW	5	141,595,753 (GRCm39)	nonsense	probably null
R7747:Sdk1	UTSW	5	142,070,246 (GRCm39)	missense	probably damaging	1.00
R7810:Sdk1	UTSW	5	141,923,434 (GRCm39)	missense	probably benign
R7985:Sdk1	UTSW	5	142,113,602 (GRCm39)	missense	probably damaging	1.00
R8129:Sdk1	UTSW	5	142,177,648 (GRCm39)	missense	probably benign	0.10
R8217:Sdk1	UTSW	5	142,197,713 (GRCm39)	missense	possibly damaging	0.81
R8249:Sdk1	UTSW	5	142,173,770 (GRCm39)	critical splice acceptor site	probably null
R8376:Sdk1	UTSW	5	142,144,376 (GRCm39)	missense	possibly damaging	0.83
R8779:Sdk1	UTSW	5	141,948,457 (GRCm39)	missense	probably benign	0.00
R8807:Sdk1	UTSW	5	142,071,382 (GRCm39)	missense	probably damaging	1.00
R8907:Sdk1	UTSW	5	142,070,278 (GRCm39)	missense	probably damaging	0.99
R8942:Sdk1	UTSW	5	142,082,598 (GRCm39)	missense	probably damaging	1.00
R8945:Sdk1	UTSW	5	141,598,935 (GRCm39)	missense	probably benign
R9006:Sdk1	UTSW	5	141,923,321 (GRCm39)	missense	probably damaging	1.00
R9249:Sdk1	UTSW	5	142,129,550 (GRCm39)	missense	probably damaging	1.00
R9275:Sdk1	UTSW	5	141,941,953 (GRCm39)	missense	possibly damaging	0.95
R9345:Sdk1	UTSW	5	142,147,708 (GRCm39)	missense	probably benign
R9463:Sdk1	UTSW	5	141,948,548 (GRCm39)	missense	probably benign	0.31
R9549:Sdk1	UTSW	5	141,940,657 (GRCm39)	missense	possibly damaging	0.95
R9572:Sdk1	UTSW	5	141,595,784 (GRCm39)	missense	probably damaging	1.00
R9602:Sdk1	UTSW	5	142,071,353 (GRCm39)	missense	probably damaging	0.99
R9703:Sdk1	UTSW	5	142,100,283 (GRCm39)	missense	possibly damaging	0.95
R9720:Sdk1	UTSW	5	142,197,796 (GRCm39)	missense	probably damaging	0.96
R9771:Sdk1	UTSW	5	142,082,624 (GRCm39)	missense	probably damaging	0.99
X0017:Sdk1	UTSW	5	141,984,535 (GRCm39)	missense	probably benign	0.00
Z1176:Sdk1	UTSW	5	141,945,065 (GRCm39)	missense	probably null	0.58
Z1177:Sdk1	UTSW	5	141,948,463 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGCAGGCTATCAGATTTCCTGG -3'
(R):5'- ACACCCTGAGAGACATGCAG -3'

Sequencing Primer
(F):5'- CTATCAGATTTCCTGGGAGGTG -3'
(R):5'- GTGAATCAGAGTCACGTGCCTTC -3'

Posted On

2014-10-02