Mutagenetix > Incidental Mutation

Incidental Mutation 'R9572:Sdk1'

722049

Institutional Source

Beutler Lab

Gene Symbol

Sdk1

Ensembl Gene

ENSMUSG00000039683

Gene Name

sidekick cell adhesion molecule 1

Synonyms

6720466O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9572 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141227245-142201341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141595784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 147 (G147R)

Ref Sequence

ENSEMBL: ENSMUSP00000082928 (fasta)

Gene Model

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

AlphaFold

Q3UH53

Predicted Effect

probably damaging
Transcript: ENSMUST00000085774
AA Change: G147R

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

SMART Domains

Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683
AA Change: G147R

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,748,477 (GRCm39)	S1083P	probably damaging	Het
Aldh6a1	C	A	12: 84,487,017 (GRCm39)	R140L	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Anapc1	G	T	2: 128,505,976 (GRCm39)	T620K	probably benign	Het
Ano1	T	A	7: 144,204,293 (GRCm39)		probably null	Het
Apol9a	C	T	15: 77,288,804 (GRCm39)	A188T	probably benign	Het
Ash1l	A	G	3: 88,960,188 (GRCm39)	K2307E	probably damaging	Het
Astn2	A	T	4: 65,299,872 (GRCm39)	S1292R	unknown	Het
Asxl3	T	A	18: 22,649,112 (GRCm39)	V367D	probably benign	Het
B3gnt7	T	A	1: 86,233,492 (GRCm39)	L246Q	probably damaging	Het
B4gat1	T	G	19: 5,089,474 (GRCm39)	L157R	probably damaging	Het
Bag4	A	T	8: 26,258,303 (GRCm39)	Y341*	probably null	Het
Bccip	G	A	7: 133,322,478 (GRCm39)	D275N	probably damaging	Het
Cd109	T	A	9: 78,567,588 (GRCm39)	F267I	probably benign	Het
Cfap221	T	A	1: 119,873,566 (GRCm39)	D487V	probably damaging	Het
Chpt1	T	C	10: 88,316,806 (GRCm39)	I217M	probably damaging	Het
Clock	T	C	5: 76,377,338 (GRCm39)	T654A	probably benign	Het
Ctsr	A	G	13: 61,310,978 (GRCm39)	S23P	probably benign	Het
Dst	T	A	1: 34,250,252 (GRCm39)	Y2055N	probably damaging	Het
F7	A	T	8: 13,083,953 (GRCm39)	I213F	probably benign	Het
Grb14	A	G	2: 64,763,680 (GRCm39)	Y232H	probably damaging	Het
Gsg1l2	A	G	11: 67,677,301 (GRCm39)	N190S	probably benign	Het
Hrnr	A	G	3: 93,239,467 (GRCm39)	Y3235C	unknown	Het
Iws1	T	A	18: 32,203,257 (GRCm39)	S44R	probably damaging	Het
Kif26b	A	T	1: 178,745,042 (GRCm39)	T1713S	probably benign	Het
Lama4	C	T	10: 38,959,271 (GRCm39)	R1230C	probably damaging	Het
Lrrcc1	G	A	3: 14,601,148 (GRCm39)	W60*	probably null	Het
Mcur1	A	G	13: 43,713,433 (GRCm39)	F57S	probably benign	Het
Mrc1	T	C	2: 14,234,334 (GRCm39)	L4P	probably benign	Het
Msh5	T	C	17: 35,250,369 (GRCm39)	Y548C	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nckap5	T	A	1: 125,955,454 (GRCm39)	N366I	probably benign	Het
Nr4a3	T	A	4: 48,051,258 (GRCm39)	V4E	probably damaging	Het
Nuak1	C	A	10: 84,228,179 (GRCm39)	V175L	probably damaging	Het
Or2ag13	A	G	7: 106,313,546 (GRCm39)	L114P	probably damaging	Het
Or5b106	T	A	19: 13,123,928 (GRCm39)	I32F	possibly damaging	Het
Or5w1	A	G	2: 87,486,914 (GRCm39)	V117A	probably benign	Het
Or8b49	A	T	9: 38,505,627 (GRCm39)	I37L	probably benign	Het
Phactr2	C	T	10: 13,264,561 (GRCm39)		probably benign	Het
Pomk	T	C	8: 26,472,936 (GRCm39)	D339G	possibly damaging	Het
Ppp2r5e	A	T	12: 75,562,468 (GRCm39)	Y88N	probably benign	Het
Ptma	T	A	1: 86,457,697 (GRCm39)	V100E	unknown	Het
Rab3b	T	C	4: 108,786,725 (GRCm39)		probably null	Het
Rp1	G	A	1: 4,418,662 (GRCm39)	H817Y	probably benign	Het
Rpn1	T	A	6: 88,078,994 (GRCm39)	I479N	probably damaging	Het
Serpina3i	C	A	12: 104,234,743 (GRCm39)	T358K	probably damaging	Het
Siglecf	A	G	7: 43,002,058 (GRCm39)	K231R	possibly damaging	Het
Skint6	C	T	4: 112,985,128 (GRCm39)	V413I	probably benign	Het
Spata7	T	C	12: 98,614,655 (GRCm39)	C96R	probably damaging	Het
Sptbn4	A	T	7: 27,066,095 (GRCm39)	V1991E	probably benign	Het
Sstr2	A	G	11: 113,516,017 (GRCm39)	Y312C	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tcerg1l	C	T	7: 137,881,787 (GRCm39)	A301T	probably benign	Het
Tmub2	T	A	11: 102,176,541 (GRCm39)	M11K		Het
Trpc6	T	A	9: 8,656,622 (GRCm39)	V761D	possibly damaging	Het
Ttll13	A	T	7: 79,908,008 (GRCm39)	N510I	probably benign	Het
Vcpip1	T	C	1: 9,816,770 (GRCm39)	N538D	possibly damaging	Het
Vmn2r100	A	T	17: 19,741,513 (GRCm39)	Y75F	probably benign	Het
Vwa5a	A	G	9: 38,649,239 (GRCm39)	I662M	probably benign	Het
Xkr5	A	G	8: 18,984,166 (GRCm39)	S459P	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	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
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
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'- GACTGAGGTCTGACTCCATG -3'
(R):5'- TGCATCCCACATCTCCTTTAGAGG -3'

Sequencing Primer
(F):5'- GGTCTGACTCCATGTAAAAATCTGC -3'
(R):5'- TTTAGAGGACCCAAGAACAAGTATC -3'

Posted On

2022-08-09