Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Sdk1'

587833

Institutional Source

Beutler Lab

Gene Symbol

Sdk1

Ensembl Gene

ENSMUSG00000039683

Gene Name

sidekick cell adhesion molecule 1

Synonyms

6720466O15Rik

MMRRC Submission

045641-MU

Accession Numbers

Essential gene?

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

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141227245-142201341 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 141595753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 136 (Y136*)

Ref Sequence

ENSEMBL: ENSMUSP00000082928 (fasta)

Gene Model

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

AlphaFold

Q3UH53

Predicted Effect

probably null
Transcript: ENSMUST00000085774
AA Change: Y136*

SMART Domains

Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: Y136*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	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
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
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
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'- ACCTAATTCATGCACACCTCTG -3'
(R):5'- AAGTATCAATCCTTCCCACAGCTG -3'

Sequencing Primer
(F):5'- GACTGAGGTCTGACTCCATG -3'
(R):5'- ACAGCTGCTGCAACTCTG -3'

Posted On

2019-10-24