Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Sdk1'

203454

Institutional Source

Beutler Lab

Gene Symbol

Sdk1

Ensembl Gene

ENSMUSG00000039683

Gene Name

sidekick cell adhesion molecule 1

Synonyms

6720466O15Rik

MMRRC Submission

039835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141227245-142201341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141598950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 205 (V205E)

Ref Sequence

ENSEMBL: ENSMUSP00000082928 (fasta)

Gene Model

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

AlphaFold

Q3UH53

Predicted Effect

probably damaging
Transcript: ENSMUST00000085774
AA Change: V205E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: V205E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150385

Meta Mutation Damage Score

0.7800

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	probably damaging	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
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
R2186:Sdk1	UTSW	5	142,032,047 (GRCm39)	missense	probably benign	0.00
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'- GCACCGACTTCACTGTAAAGTATAG -3'
(R):5'- CTTGAAAACAGGCAAGCCGG -3'

Sequencing Primer
(F):5'- AAAGTATAGCTATTTCCCTCTCTGAC -3'
(R):5'- AGGCAAGCCGGTCGGTC -3'

Posted On

2014-06-23